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Items: 1 to 20 of 94

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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
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 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
    nsv4456580copy number variation1nstd102humanUncertain significance GRCh37 chr12: 102,414,522-105,845,768 , GRCh38.p12 chr12: 102,020,744-105,451,990 HCFC2, MIR3652, 50 more genes
    nsv4455685copy number variation1nstd102humanUncertain significance GRCh37 chr12: 103,318,822-103,751,173 , GRCh38.p12 chr12: 102,925,044-103,357,395 LOC112267865, ASCL1, 3 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
    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
    nsv3907610copy number variation1nstd102humanUncertain significance GRCh37 chr12: 100,580,198-105,804,075 , GRCh38.p12 chr12: 100,186,420-105,410,297 ASCL1, C12orf75-AS1, 87 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
    nsv3900015copy number variation1nstd102humanPathogenic GRCh37 chr12: 94,881,995-103,635,998 , GRCh38.p12 chr12: 94,488,219-103,242,220 CDK17, LOC107984548, 140 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 , RNU4ATAC16P, 2452 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
    nsv3168514copy number variation1nstd158human GRCh37 chr12: 66,451,083-108,422,713 , GRCh38.p12 chr12: 66,057,303-108,028,936 , APAF1, 573 more genes
    nsv3168340inversion1nstd158human GRCh37 chr12: 66,451,836-123,782,201 , GRCh38.p12 chr12: 66,058,056-123,297,654 , ACACB, 909 more genes
    nsv2740531copy number variation1nstd130human NCBI36 chr12: 49,559,698-128,874,436 , GRCh37.p13 chr12: 51,273,431-130,308,483 , GRCh38.p12 chr12: 50,879,648-129,823,938 , LINC01234, 1477 more genes
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