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Items: 1 to 20 of 137

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099197copy number variation1nstd231human GRCh38.p12 chr1: 43,487,884-44,020,389 , GRCh37 chr1: 43,953,555-44,486,061 ATP6V0B, DPH2, 14 more genes
    nsv7095531copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821 AKR1A1, OSTCP5, 87 more genes
    nsv7055071inversion1nstd229human GRCh38 chr1: 43,970,005-47,371,780 , GRCh37.p13 chr1: 44,435,677-47,837,452 SNORD38A, PPIAP36, 121 more genes
    nsv7054826inversion1nstd229human GRCh38 chr1: 43,915,848-44,729,930 , GRCh37.p13 chr1: 44,381,520-45,195,602 RNU5F-1, KLF18, 31 more genes
    nsv6650441copy number variation1nstd229human GRCh38 chr1: 43,970,552-43,970,580 , GRCh37.p13 chr1: 44,436,224-44,436,252 DPH2
    nsv6650369copy number variation1nstd229human GRCh38 chr1: 43,969,950-43,970,103 , GRCh37.p13 chr1: 44,435,622-44,435,775 DPH2
    nsv6650231copy number variation1nstd229human GRCh38 chr1: 43,973,829-43,980,417 , GRCh37.p13 chr1: 44,439,501-44,446,089 ATP6V0B, B4GALT2, 1 more genes
    nsv6636253copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,115,963-44,434,808 , GRCh38.p12 chr1: 43,650,292-43,969,136 KDM4A, DPH2, 9 more genes
    nsv6314936copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,346,001-46,332,161 , GRCh38.p12 chr1: 43,880,329-45,866,489 ZSWIM5, OSTCP5, 79 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6310811copy number variation2nstd102humanUncertain significance, Likely pathogenic GRCh37 chr1: 44,360,035-44,482,805 , GRCh38.p12 chr1: 43,894,363-44,017,133 ATP6V0B, DPH2, 8 more genes
    nsv6133871copy number variation1nstd213human GRCh37 chr1: 44,070,000-46,570,001 , GRCh38.p12 chr1: 43,604,329-46,104,329 ATP6V0B, PLK3, 87 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4674295copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,424,878-45,207,102 , GRCh38.p12 chr1: 43,959,206-44,741,430 RNU5D-1, ATP6V0B, 28 more genes
    nsv4451506copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,336,799-44,713,202 , GRCh38.p12 chr1: 42,871,128-44,247,530 CCDC24, KRT8P47, 54 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv3920821copy number variation1nstd102humanUncertain significance NCBI36 chr1: 44,197,807-44,430,049 , GRCh37.p13 chr1: 44,425,220-44,657,462 , GRCh38.p12 chr1: 43,959,548-44,191,790 LOC107984948, LOC100130714, 13 more genes
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