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Items: 1 to 20 of 118

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099260copy number variation1nstd231human GRCh38.p12 chr1: 207,518,788-210,916,265 , GRCh37 chr1: 207,692,133-211,089,607 ADORA2BP1, ATP5MC2P1, 60 more genes
    nsv7044092inversion1nstd229human GRCh38 chr1: 203,118,726-211,305,271 , GRCh37.p13 chr1: 203,087,854-211,478,613 LOC100420418, LINC00260, 201 more genes
    nsv6664286copy number variation1nstd229human GRCh38 chr1: 209,430,926-209,441,557 , GRCh37.p13 chr1: 209,604,271-209,614,902 MIR205HG, MIR205
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6321267copy number variation1nstd223human GRCh38 chr1: 209,345,386-209,677,728 , GRCh37.p13 chr1: 209,518,731-209,851,073 HSD11B1-AS1, LOC105372898, 9 more genes
    nsv6133752copy number variation1nstd213human GRCh37 chr1: 207,160,000-210,270,001 , GRCh38.p12 chr1: 206,986,655-210,096,656 ADORA2BP1, C4BPA, 62 more genes
    nsv6133630copy number variation2nstd213human GRCh37 chr1: 206,490,000-223,720,001 , GRCh38.p12 chr1: 206,316,655-223,546,636 ATP5MC2P1, CENPF, 269 more genes
    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
    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
    nsv4728203copy number variation1nstd102humanUncertain significance GRCh37 chr1: 208,703,835-210,154,164 , GRCh38.p12 chr1: 208,530,490-209,980,819 ADORA2BP1, MIR4260, 29 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4516715copy number variation1nstd166human GRCh37.p13 chr1: 207,930,080-214,726,645 , GRCh38.p12 chr1: 207,756,735-214,553,302 , UTP25, 121 more genes
    nsv4452160copy number variation1nstd102humanUncertain significance GRCh37 chr1: 206,329,070-213,263,817 , GRCh38.p12 chr1: 206,308,879-213,090,475 CDCA4P4, LOC105372889, 146 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv3964034copy number variation1nstd168human GRCh38 chr1: 209,431,602-209,448,003 , GRCh37.p13 chr1: 209,604,947-209,621,348 MIR205, MIR205HG
    nsv3917200copy number variation1nstd102humanPathogenic NCBI36 chr1: 206,303,429-210,147,777 , GRCh37.p13 chr1: 208,236,806-212,081,154 , GRCh38.p12 chr1: 208,063,461-211,907,812 LOC105372904, TRAF3IP3, 68 more genes
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