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Items: 1 to 20 of 82

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5037136inversion1nstd200human GRCh38 chr12: 69,787,024-109,882,221 , GRCh37.p13 chr12: 70,180,804-110,320,026 , RPL23AP68, 540 more genes
    nsv4886161inversion1nstd200human GRCh37 chr12: 70,180,810-110,320,027 , GRCh38.p12 chr12: 69,787,030-109,882,222 , LOC728739, 540 more genes
    nsv4769383copy number variation1nstd102humanUncertain significance GRCh37 chr12: 107,197,584-109,830,564 , GRCh38.p12 chr12: 106,803,806-109,392,759 TMEM263, MYO1H, 50 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
    nsv4728881copy number variation1nstd102humanPathogenic GRCh37 chr12: 106,498,814-112,252,906 , GRCh38.p12 chr12: 106,105,036-111,815,102 ATP2A2, CUX2, 115 more genes
    nsv4675412copy number variation1nstd102humanUncertain significance GRCh37 chr12: 109,199,902-110,267,493 , GRCh38.p12 chr12: 108,806,126-109,829,688 FAM222A-AS1, LINC01486, 24 more genes
    nsv4325802inversion1nstd166human GRCh37.p13 chr12: 70,180,810-110,320,028 , GRCh38.p12 chr12: 69,787,030-109,882,223 , APAF1, 540 more genes
    nsv3924338copy number variation1nstd102humanPathogenic NCBI36 chr12: 89,962,226-108,055,398 , GRCh38 chr12: 91,044,318-109,133,210 , GRCh37 chr12: 91,438,095-109,571,015 NUP37, TTC41P, 295 more genes
    nsv3916234copy number variation1nstd102humanPathogenic NCBI36 chr12: 104,152,585-111,116,873 , GRCh37 chr12: 105,628,455-112,632,490 , GRCh38 chr12: 105,234,677-112,194,686 LOC100287944, PWP1, 141 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
    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
    nsv3897473copy number variation1nstd102humanLikely benign GRCh37 chr12: 109,190,922-109,989,416 , GRCh38.p12 chr12: 108,797,146-109,551,611 MYO1H, RNU6-361P, 17 more genes
    nsv3893927copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 103,044,333-111,639,805 , GRCh38.p12 chr12: 102,650,555-111,202,001 ACACB, ASCL1, 150 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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