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Items: 1 to 20 of 649

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7148158copy number variation1nstd102humanPathogenic GRCh38 chr1: 235,215,476-247,005,888 , GRCh37.p13 chr1: 235,378,791-247,169,190 RNU6-747P, LINC01139, 172 more genes
    nsv7147854insertion1nstd232human GRCh37.p13 chr1: 235,602,236-235,602,236 , GRCh38.p12 chr1: 235,438,921-235,438,921 , GRCh38.p12 chr1|NW_014040927.1: 82,513-82,513 TBCE, B3GALNT2
    nsv7140121insertion1nstd232human GRCh37.p13 chr1: 235,613,660-235,613,660 , GRCh38.p12 chr1: 235,450,345-235,450,345 , GRCh38.p12 chr1|NW_014040927.1: 93,937-93,937 TBCE, B3GALNT2
    nsv7137173copy number variation1nstd102humanPathogenic GRCh38 chr1: 233,502,994-236,105,019 , GRCh37.p13 chr1: 233,638,740-236,268,319 ARID4B, MTND3P8, 58 more genes
    nsv7099266copy number variation1nstd231human GRCh38.p12 chr1: 226,993,371-235,936,592 , GRCh37 chr1: 227,181,072-236,099,892 ACTA1, AGT, 223 more genes
    nsv7095978copy number variation1nstd102humanUncertain significance GRCh37 chr1: 235,611,644-235,612,077 , GRCh38.p12 chr1|NW_014040927.1: 91,921-92,354 , GRCh38.p12 chr1: 235,448,329-235,448,762 B3GALNT2, TBCE
    nsv7095977copy number variation1nstd102humanUncertain significance GRCh37 chr1: 235,543,365-235,619,016 , GRCh38.p12 chr1: 235,380,050-235,455,704 , GRCh38.p12 chr1|NW_014040927.1: 19,851-99,296 TBCE, RPS21P1, 1 more genes
    nsv7095592copy number variation1nstd102humanUncertain significance GRCh37 chr1: 235,564,798-235,564,922 , GRCh38.p12 chr1: 235,401,483-235,401,607 , GRCh38.p12 chr1|NW_014040927.1: 41,298-41,422 TBCE
    nsv7095517copy number variation1nstd102humanUncertain significance GRCh37 chr1: 235,597,771-235,599,084 , GRCh38.p12 chr1|NW_014040927.1: 78,048-79,361 , GRCh38.p12 chr1: 235,434,456-235,435,769 TBCE
    nsv7095516copy number variation1nstd102humanUncertain significance GRCh37 chr1: 235,597,499-235,597,615 , GRCh38.p12 chr1|NW_014040927.1: 77,776-77,892 , GRCh38.p12 chr1: 235,434,184-235,434,300 TBCE
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7057850inversion1nstd229human GRCh38 chr1: 235,440,829-235,578,083 , GRCh37.p13 chr1: 235,604,144-235,741,383 MTND6P14, MTND5P19, 8 more genes
    nsv7054147inversion1nstd229human GRCh38 chr1: 235,372,573-235,542,978 , GRCh37.p13 chr1: 235,535,888-235,706,278 MTCO3P46, B3GALNT2, 8 more genes
    nsv7048010inversion1nstd229human GRCh38 chr1: 233,396,223-235,667,657 , GRCh37.p13 chr1: 233,531,969-235,830,957 RN7SL668P, LINC02961, 52 more genes
    nsv7044547inversion1nstd229human GRCh38 chr1: 234,053,817-240,091,334 , GRCh37.p13 chr1: 234,189,563-240,254,634 RNU6-725P, RNU6-968P, 101 more genes
    nsv7044310inversion1nstd229human GRCh38 chr1: 230,890,958-235,370,433 , GRCh37.p13 chr1: 231,026,704-235,533,748 TARBP1, LOC105373170, 86 more genes
    nsv7040505inversion1nstd229human GRCh38 chr1: 235,226,873-236,268,697 , GRCh37.p13 chr1: 235,390,188-236,431,997 RPS21P1, NID1, 26 more genes
    nsv6678086copy number variation1nstd229human GRCh38 chr1: 235,396,310-235,429,970 , GRCh37.p13 chr1: 235,559,625-235,593,285 TBCE
    nsv6677097copy number variation1nstd229human GRCh38 chr1: 235,446,148-235,458,163 , GRCh37.p13 chr1: 235,609,463-235,621,471 TBCE, B3GALNT2
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