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Items: 1 to 20 of 92

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7070180inversion1nstd229human GRCh38 chr12: 111,927,437-115,941,441 , GRCh37.p13 chr12: 112,365,241-116,379,246 OAS1, LHX5, 62 more genes
    nsv6933972copy number variation1nstd229human GRCh38 chr12: 114,403,052-114,413,252 , GRCh37.p13 chr12: 114,840,857-114,851,057 TBX5-AS1, LOC105369998, 1 more genes
    nsv6313978copy number variation1nstd102humanPathogenic GRCh37 chr12: 113,445,811-114,933,860 , GRCh38.p12 chr12: 113,008,006-114,496,055 LOC105369993, LHX5-AS1, 32 more genes
    nsv6309464copy number variation1nstd102humanPathogenic GRCh37 chr12: 114,837,390-114,846,189 , GRCh38.p12 chr12: 114,399,585-114,408,384 TBX5, TBX5-AS1
    nsv6309391copy number variation1nstd102humanPathogenic GRCh37 chr12: 113,120,652-115,362,584 , GRCh38.p12 chr12: 112,682,847-114,924,779 LOC105369993, MIR6762, 41 more genes
    nsv6289963copy number variation1nstd102humanPathogenic GRCh37 chr12: 114,795,705-114,844,082 , GRCh38.p12 chr12: 114,357,900-114,406,277 TBX5, TBX5-AS1
    nsv6132320copy number variation1nstd213human GRCh37 chr12: 114,660,000-117,390,001 , GRCh38.p12 chr12: 114,222,195-116,952,196 FBXW8, RPL21P105, 31 more genes
    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
    nsv4675973copy number variation1nstd102humanPathogenic GRCh37 chr12: 114,756,557-114,871,208 , GRCh38.p12 chr12: 114,318,752-114,433,403 TBX5, TBX5-AS1, 1 more genes
    nsv4224288copy number variation1nstd166human GRCh37.p13 chr12: 114,850,522-114,854,914 , GRCh38.p12 chr12: 114,412,717-114,417,109 LOC105369998, TBX5-AS1
    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
    nsv3913894copy number variation1nstd102humanPathogenic NCBI36 chr12: 113,190,591-132,287,975 , GRCh38 chr12: 114,268,403-133,201,316 , GRCh37 chr12: 114,706,208-133,777,902 TAOK3, LINC02405, 386 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 , LOH12CR2, 2452 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 , OR5BT1P, 2441 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 , RNA5SP369, 2454 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 , RNU4ATAC16P, 2452 more genes
    nsv3169098inversion1nstd158human GRCh37 chr12: 28,095,967-121,612,723 , GRCh38.p12 chr12: 27,943,034-121,174,920 , ACACB, 1642 more genes
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