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Items: 1 to 20 of 79

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5495323copy number variation1nstd206human GRCh38 chr12: 48,572,101-48,572,173 , GRCh37.p13 chr12: 48,965,884-48,965,956 LALBA
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4837889copy number variation1nstd200human GRCh37 chr12: 48,958,653-48,959,542 , GRCh38.p12 chr12: 48,564,870-48,565,759 LALBA
    nsv4763701insertion1nstd199human GRCh37 chr12: 48,965,889-48,965,889 , GRCh38.p12 chr12: 48,572,106-48,572,106 LALBA
    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
    nsv4457182copy number variation1nstd102humanUncertain significance GRCh37 chr12: 48,944,713-49,265,377 , GRCh38.p12 chr12: 48,550,930-48,871,594 SNORA2A, LALBA, 17 more genes
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4195722copy number variation1nstd166human GRCh37.p13 chr12: 48,958,660-48,966,892 , GRCh38.p12 chr12: 48,564,877-48,573,109 LALBA
    nsv4193997copy number variation1nstd166human GRCh37.p13 chr12: 48,961,116-48,963,897 , GRCh38.p12 chr12: 48,567,333-48,570,114 LALBA
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 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
    nsv3907271copy number variation1nstd102humanUncertain significance GRCh37 chr12: 48,961,450-49,255,821 , GRCh38.p12 chr12: 48,567,667-48,862,038 ADCY6, DDX23, 16 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
    nsv3898591copy number variation1nstd102humanPathogenic GRCh37 chr12: 37,857,750-49,791,459 , GRCh38.p12 chr12: 37,463,948-49,397,676 ZNF75BP, YAF2, 195 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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