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Table 3 Exonic SVs with assembly support absent from DGV

From: Assessing structural variation in a personal genome—towards a human reference diploid genome

Gene Chr Start End Type Source Flag
ASTN1 1 177,131,105 177,139,508 INS ARR,ILL,PAC 7
C16orf96 16 4,619,222 4,629,905 INS ARR,ILL,PAC 7
DOCK3 3 50,879,021 50,879,201 INS ILL,PAC 7
PCNXL4 14 60,575,443 60,575,546 INS ILL,PAC 7
PKD1L3 16 72,030,321 72,032,511 INS ILL,PAC 7
TBC1D3G 17 34,805,579 34,815,084 DEL ILL,PAC 7
MAGEA11 X 148,735,694 148,830,894 MIS ILL,NEX 6
METTL21C 13 103,345,467 103,348,148 INS ILL,NEX 6
RAP1GDS1 4 99,179,171 99,184,420 DEL ARR 5
ZNF826P 19 20,504,301 20,595,300 DEL ILL 5
ASTN1 1 177,131,101 177,139,495 MIS ILL 5
C20orf96 20 258,785 260,245 DEL ARR 5
CSMD3 8 113,234,275 113,239,237 DEL NEX 5
GMCL1 2 70,066,401 70,071,781 MIS NEX 5
HLA-DRB1 6 32,547,848 32,548,158 DEL ILL 5
MLF1IP 4 185,651,743 185,652,393 INS ILL 5
MTO1 6 74,203,747 74,216,637 MIS ILL 5
MUC2 11 1,092,829 1,093,579 INS ILL 5
OR4C6 11 55,431,550 55,457,289 INS ILL 5
PDE4DIP 1 144,954,098 144,960,871 MIS ILL 5
RAB11FIP3 16 544,841 547,158 INS NEX 5
AP2A2 11 915,248 928,463 INS ARR 4
TPSB2 16 1,274,089 1,288,819 INS ARR 4
TPSG1 16 1,274,089 1,288,819 INS ARR 4
ALDH16A1 19 49,966,580 49,968,737 INS NEX 4
ASMTL X 1,550,501 1,572,400 INS ILL 4
C14orf39 14 60,913,981 60,941,067 MIS ILL 4
CCL24 7 75,438,336 75,451,936 INS ILL 4
CD99 X 2,651,401 2,699,500 INS ILL 4
CNTNAP3B 9 43,844,101 43,866,100 INS ILL 4
CTNNA2 2 80,769,022 80,780,356 MIS ILL 4
DEFA1 8 6,833,701 6,844,000 DEL ILL 4
DSPP 4 88,536,463 88,536,667 INS ILL 4
ENPP7 17 77,699,565 77,726,581 MIS ILL 4
EXOC6B 2 72,688,192 72,697,903 MIS ILL 4
FAM186A 12 50,745,742 50,745,861 INS PAC 4
FOXO6 1 41,847,826 41,847,932 INS PAC 4
FRK 6 116,274,618 116,307,096 MIS ILL 4
HERC2 15 28,547,301 28,566,700 INS ILL 4
HSD17B3 9 99,057,917 99,063,709 MIS ILL 4
IFNAR1 21 34,694,683 34,701,442 MIS NEX 4
IGHV4-61 14 107,087,259 107,099,190 INS ILL 4
IL28A 19 39,730,613 39,762,849 MIS NEX 4
IL28B 19 39,730,613 39,762,849 MIS NEX 4
IL3RA X 1,494,601 1,510,800 INS ILL 4
KIAA1671 22 25,441,077 25,467,572 INS ILL 4
KRT37 17 39,579,211 39,595,476 MIS ILL 4
KRT38 17 39,579,211 39,595,476 MIS ILL 4
KRTAP4-7 17 39,240,740 39,240,840 INS PAC 4
KRTAP5-4 11 1,642,915 1,643,128 INS PAC 4
MATR3 5 138,652,720 138,666,146 INS ARR 4
NBPF15 1 148,571,852 148,591,725 INS ARR 4
OR2A7 7 143,945,501 143,956,800 INS ILL 4
OR2G6 1 248,682,789 248,702,341 MIS NEX 4
OR4C3 11 48,340,701 48,347,600 INS ILL 4
OR4C6 11 55,431,551 55,445,867 INS PAC 4
OR8U1 11 56,143,129 56,143,999 INS PAC 4
PLXNB2 22 50,723,862 50,724,455 DEL ILL 4
PPP2R3B X 290,201 300,100 INS ILL 4
PPP2R3B X 327,401 344,700 INS ILL 4
PRIM2 6 57,494,250 57,507,908 INS ILL 4
RFC1 4 39,350,151 39,353,407 INS NEX 4
RGPD3 2 107,082,401 107,085,300 DEL ILL 4
RRBP1 20 17,639,769 17,639,981 INS PAC 4
SAMD1 19 14,200,852 14,200,953 INS PAC 4
SHOX X 598,001 628,300 INS ILL 4
SLC25A6 X 1,494,601 1,510,800 INS ILL 4
SMC1B 22 45,745,435 45,746,440 INS ILL 4
TMEFF2 2 192,818,912 192,840,053 MIS ILL 4
UTS2D 3 190,999,450 191,019,577 INS ILL 4
XG X 2,651,401 2,699,500 INS ILL 4
ZNF208 19 22,156,807 22,156,912 DEL PAC 4
ZNF253 19 19,990,342 20,005,317 MIS ILL 4
ZNF346 5 176,462,777 176,474,191 INS ILL 4
ZNF519 18 14,105,158 14,105,265 DEL PAC 4
  1. Genomic location, SV type, Parliament bitflag, and supporting data types are provided for the 75 HS1011 SVs overlapping an exon but not matching a DGV event.