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Items: 1 to 20 of 135

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5973346inversion1nstd209human GRCh38 chr12: 118,054,601-123,705,841 , GRCh37.p13 chr12: 118,492,406-124,190,388 , ACADS, 162 more genes
    nsv5935716copy number variation1nstd209human GRCh38 chr12: 121,403,851-121,403,959 , GRCh37.p13 chr12|NW_004504303.2: 79,854-79,962 , GRCh37.p13 chr12: 121,841,654-121,841,762 RNF34, KDM2B
    nsv5555463sequence alteration1nstd206human GRCh38 chr12: 120,561,097-121,398,447 , GRCh37.p13 chr12: 120,998,900-121,761,800 P2RX7, OASL, 27 more genes
    nsv5268306copy number variation1nstd204human GRCh38.p13 chr12: 121,183,901-121,747,200 , GRCh37.p13 chr12: 121,621,704-122,185,106 , GRCh37.p13 chr12|NW_004504303.2: 1-334,922 , TMEM120B, 13 more genes
    nsv4993776copy number variation1nstd200human GRCh38 chr12: 121,397,766-121,398,520 , GRCh37.p13 chr12|NW_004504303.2: 73,769-74,523 , GRCh37.p13 chr12: 121,835,569-121,836,323 RNF34
    nsv4756208inversion1nstd199human GRCh37 chr12: 104,359,633-125,801,147 , GRCh38.p12 chr12: 103,965,855-125,316,601 , ACACB, 453 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4754840inversion1nstd199human GRCh37 chr12: 104,382,539-125,801,164 , GRCh38.p12 chr12: 103,988,761-125,316,618 , ACACB, 452 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4680254copy number variation1nstd189human GRCh37.p13 chr12: 121,825,920-122,679,071 , GRCh38.p12 chr12: 121,388,117-122,194,524 , BCL7A, 22 more genes
    nsv4611336copy number variation1nstd183human GRCh37 chr12: 121,811,773-121,844,028 , GRCh38.p12 chr12: 121,373,970-121,406,225 KDM2B, RNF34
    nsv4563671sequence alteration1nstd166human GRCh37.p13 chr12: 120,998,865-121,836,049 , GRCh38.p12 chr12: 120,561,062-121,398,246 ACADS, P2RX4, 27 more genes
    nsv4388107copy number variation1nstd173human GRCh37 chr12: 121,825,637-121,855,119 , GRCh38.p12 chr12: 121,387,834-121,417,316 RNF34, KDM2B
    nsv4222859copy number variation1nstd166human GRCh37.p13 chr12: 121,842,760-121,843,004 , GRCh38.p12 chr12: 121,404,957-121,405,201 KDM2B, RNF34
    nsv4215201copy number variation1nstd166human GRCh37.p13 chr12: 121,841,690-121,841,776 , GRCh38.p12 chr12: 121,403,887-121,403,973 KDM2B, RNF34
    nsv3924220copy number variation1nstd102humanPathogenic GRCh38 chr12: 115,131,583-133,166,920 , NCBI36 chr12: 114,053,771-132,253,579 , GRCh37 chr12: 115,569,388-133,743,506 LOC105370080, LINC02985, 376 more genes
    nsv3923612copy number variation1nstd102humanPathogenic GRCh38 chr12: 120,718,786-127,500,215 , GRCh37 chr12: 121,156,589-127,984,760 , NCBI36 chr12: 119,640,972-126,550,713 NCOR2, LOC105378258, 161 more genes
    nsv3923347copy number variation1nstd102humanPathogenic NCBI36 chr12: 119,619,858-132,289,149 , GRCh37 chr12: 121,135,475-133,779,076 , GRCh38 chr12: 120,697,672-133,202,490 LOC105370044, RNU6-1017P, 273 more genes
    nsv3922210copy number variation1nstd102humanPathogenic NCBI36 chr12: 120,248,060-121,556,029 , GRCh37 chr12: 121,956,483-122,990,076 , GRCh38 chr12: 121,325,874-122,505,529 KDM2B-DT, SETD1B, 31 more genes
    nsv3922077copy number variation1nstd102humanUncertain significance NCBI36 chr12: 118,209,081-121,689,052 , GRCh38 chr12: 119,286,893-122,638,552 , GRCh37 chr12: 119,724,698-123,123,099 RPS20P31, LOC105378258, 94 more genes
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