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Items: 1 to 20 of 163

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4904036copy number variation1nstd200human GRCh38 chr1: 173,863,745-173,865,279 , GRCh37.p13 chr1: 173,832,883-173,834,417 SNORD75, SNORD78, 10 more genes
    nsv4904035copy number variation1nstd200human GRCh38 chr1: 173,862,975-173,865,096 , GRCh37.p13 chr1: 173,832,113-173,834,234 GAS5, SNORD47, 10 more genes
    nsv4898082copy number variation1nstd200human GRCh38 chr1: 173,862,962-173,864,246 , GRCh37.p13 chr1: 173,832,100-173,833,384 SNORD81, SNORD79, 7 more genes
    nsv4781274copy number variation1nstd200human GRCh37 chr1: 173,832,113-173,834,234 , GRCh38.p12 chr1: 173,862,975-173,865,096 SNORD76, SNORD47, 10 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728231copy number variation1nstd102humanPathogenic GRCh37 chr1: 173,162,501-182,702,252 , GRCh38.p12 chr1: 173,193,362-182,733,117 KIAA1614, STX6, 166 more genes
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
    nsv4674377copy number variation1nstd102humanUncertain significance GRCh37 chr1: 173,705,375-173,961,992 , GRCh38.p12 chr1: 173,736,236-173,992,854 RNA5SP67, ZBTB37, 21 more genes
    nsv4517947copy number variation1nstd166human GRCh37.p13 chr1: 173,516,998-173,916,000 , GRCh38.p12 chr1: 173,547,859-173,946,862 RN7SKP160, SLC9C2, 24 more genes
    nsv4436666copy number variation1nstd102humanUncertain significance GRCh37 chr1: 173,401,888-174,124,738 , GRCh38.p12 chr1: 173,432,749-174,155,600 SNORA103, SNORD78, 33 more genes
    nsv4436225copy number variation1nstd102humanPathogenic GRCh37 chr1: 172,652,343-183,538,289 , GRCh38.p12 chr1: 172,683,203-183,569,154 KIAA1614-AS1, LOC105371630, 190 more genes
    nsv4346686copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,423,492-180,367,623 , GRCh38.p12 chr1: 169,454,254-180,398,488 TNFSF4, MIR3119-1, 202 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3904950copy number variation1nstd102humanPathogenic GRCh38 chr1: 166,762,832-175,327,423 , NCBI36 chr1: 164,998,693-173,563,182 , GRCh37 chr1: 166,732,069-175,296,559 LINC01681, SELE, 186 more genes
    nsv3904393copy number variation1nstd102humanPathogenic GRCh37 chr1: 170,898,861-191,034,539 , GRCh38 chr1: 170,929,720-191,065,409 , NCBI36 chr1: 169,165,485-189,301,162 RPL18P2, KIAA0040, 302 more genes
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