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Items: 1 to 20 of 196

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099241copy number variation1nstd231human GRCh38.p12 chr1: 161,703,753-165,575,316 , GRCh37 chr1: 161,673,543-165,544,553 LMX1A, DDR2, 49 more genes
    nsv7057537inversion1nstd229human GRCh38 chr1: 161,493,525-166,518,262 , GRCh37.p13 chr1: 161,463,315-166,487,499 LOC107985451, ALDH9A1, 88 more genes
    nsv7042802inversion1nstd229human GRCh38 chr1: 159,324,839-163,640,188 , GRCh37.p13 chr1: 159,294,629-163,609,919 TRG-GCC2-1, LOC107985220, 178 more genes
    nsv7039884inversion1nstd229human GRCh38 chr1: 159,817,036-167,858,499 , GRCh37.p13 chr1: 159,786,826-167,827,737 TRP-AGG2-1, FCGR2C, 228 more genes
    nsv6643607copy number variation1nstd229human GRCh38 chr1: 162,104,470-162,394,594 , GRCh37.p13 chr1: 162,074,260-162,364,384 SPATA46, MIR4654, 6 more genes
    nsv6643406copy number variation1nstd229human GRCh38 chr1: 162,405,102-162,411,685 , GRCh37.p13 chr1: 162,374,892-162,381,475 SH2D1B
    nsv6637132copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 161,924,068-164,761,399 , GRCh38.p12 chr1: 161,954,278-164,792,162 DDR2, PBX1, 33 more genes
    nsv6332269copy number variation1nstd223human GRCh38 chr1: 160,388,767-162,811,116 , GRCh37.p13 chr1: 160,358,557-162,780,906 ATF6-DT, RPS23P10, 119 more genes
    nsv6329202copy number variation1nstd223human GRCh38 chr1: 162,409,830-162,414,574 , GRCh37.p13 chr1: 162,379,620-162,384,364 SH2D1B
    nsv6318570copy number variation1nstd223human GRCh38 chr1: 162,393,401-162,394,300 , GRCh37.p13 chr1: 162,363,191-162,364,090 SH2D1B
    nsv6313719copy number variation1nstd102humanPathogenic GRCh37 chr1: 162,330,810-171,532,331 , GRCh38.p12 chr1: 162,361,020-171,563,192 LOC100420658, LOC105371610, 167 more genes
    nsv6313604copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,417,296-166,197,042 , GRCh38.p12 chr1: 160,447,506-166,227,805 USF1, TRE-CTC1-3, 161 more genes
    nsv6310595copy number variation2nstd102humanUncertain significance GRCh37 chr1: 158,581,054-162,750,036 , GRCh38.p12 chr1: 158,611,264-162,780,246 IGSF8, SETP9, 193 more genes
    nsv6133934copy number variation1nstd213human GRCh37 chr1: 161,630,000-164,240,001 , GRCh38.p12 chr1: 161,660,210-164,270,764 FCGR2B, NOS1AP, 35 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133591copy number variation1nstd213human GRCh37 chr1: 161,850,000-162,390,001 , GRCh38.p12 chr1: 161,880,210-162,420,211 SH2D1B, C1orf226, 9 more genes
    nsv5981658copy number variation1nstd212human GRCh38 chr1: 162,104,471-162,394,594 , GRCh37.p13 chr1: 162,074,261-162,364,384 NOS1AP, SH2D1B, 6 more genes
    nsv5677552mobile element insertion1nstd211human GRCh38 chr1: 162,401,354-162,401,354 , GRCh37.p13 chr1: 162,371,144-162,371,144 SH2D1B
    nsv5677431mobile element insertion1nstd211human GRCh38 chr1: 162,403,512-162,403,512 , GRCh37.p13 chr1: 162,373,302-162,373,302 SH2D1B
    nsv5420444copy number variation1nstd206human GRCh38 chr1: 162,104,470-162,394,594 , GRCh37.p13 chr1: 162,074,260-162,364,384 NOS1AP, SH2D1B, 6 more genes
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