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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5303341copy number variation1nstd204human GRCh37.p13 chr12: 116,574,917-116,590,129 , GRCh38.p13 chr12: 116,137,112-116,152,324 MED13L, MIR620
    nsv5260395copy number variation1nstd204human GRCh38.p13 chr12: 116,136,620-116,152,352 , GRCh37.p13 chr12: 116,574,425-116,590,157 MIR620, MED13L
    nsv4848116copy number variation1nstd200human GRCh37 chr12: 116,574,919-116,590,129 , GRCh38.p12 chr12: 116,137,114-116,152,324 MIR620, MED13L
    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
    nsv4675931copy number variation1nstd102humanLikely pathogenic GRCh38.p12 chr12: 115,979,287-116,202,072 , GRCh37 chr12: 116,417,092-116,639,877 MED13L, MIR620, 2 more genes
    nsv4675416copy number variation1nstd102humanUncertain significance GRCh37 chr12: 116,414,991-116,639,877 , GRCh38.p12 chr12: 115,977,186-116,202,072 RNU6-1188P, MED13L, 2 more genes
    nsv4674960copy number variation1nstd102humanUncertain significance GRCh37 chr12: 116,416,809-117,740,952 , GRCh38.p12 chr12: 115,979,004-117,303,147 LINC02457, MAP1LC3B2, 23 more genes
    nsv4674863copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh37 chr12: 116,528,514-116,605,811 , GRCh38.p12 chr12: 116,090,709-116,168,006 MED13L, MIR620, 1 more genes
    nsv4616702copy number variation1nstd183human GRCh37 chr12: 115,458,815-116,590,780 , GRCh38.p12 chr12: 115,021,010-116,152,975 MED13L, MIR620, 7 more genes
    nsv4456961copy number variation1nstd102humanUncertain significance GRCh37 chr12: 116,551,934-117,093,172 , GRCh38.p12 chr12: 116,114,129-116,655,367 MAP1LC3B2, LOC105370007, 8 more genes
    nsv4367584copy number variation1nstd173human GRCh37 chr12: 116,468,022-116,851,135 , GRCh38.p12 chr12: 116,030,217-116,413,330 , LOC105370005, 4 more genes
    nsv4349133copy number variation1nstd102humanPathogenic GRCh37 chr12: 116,446,308-116,638,445 , GRCh38.p12 chr12: 116,008,503-116,200,640 MED13L, MIR620, 2 more genes
    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
    nsv3920368copy number variation1nstd102humanPathogenic NCBI36 chr12: 115,015,595-115,089,769 , GRCh37 chr12: 116,531,212-116,605,386 , GRCh38 chr12: 116,093,407-116,167,581 MED13L, MIR620, 1 more genes
    nsv3917809copy number variation1nstd102humanLikely pathogenic NCBI36 chr12: 114,960,546-115,140,674 , GRCh37 chr12: 116,476,163-116,656,291 , GRCh38 chr12: 116,038,358-116,218,486 MED13L, MIR620, 2 more genes
    nsv3916921copy number variation1nstd102humanUncertain significance GRCh37 chr12: 116,466,743-117,737,905 , GRCh38 chr12: 116,028,938-117,300,100 , NCBI36 chr12: 114,951,126-116,222,288 LINC00173, FBXW8, 23 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
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