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Items: 1 to 20 of 88

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5971029insertion1nstd209human GRCh38 chr12: 45,117,155-45,117,155 , GRCh37.p13 chr12: 45,510,938-45,510,938 RNA5SP361
    nsv5649377insertion1nstd207human GRCh38 chr12: 45,117,155-45,117,155 , GRCh37.p13 chr12: 45,510,938-45,510,938 RNA5SP361
    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
    nsv5122758mobile element insertion1nstd203human GRCh38 chr12: 45,117,135-45,117,156 , GRCh37.p13 chr12: 45,510,918-45,510,939 RNA5SP361
    nsv5029954inversion1nstd200human GRCh38 chr12: 38,328,571-48,487,625 , GRCh37.p13 chr12: 38,722,373-48,881,408 , MESDP1, 138 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
    nsv4728979copy number variation1nstd102humanUncertain significance GRCh37 chr12: 43,953,566-46,197,331 , GRCh38.p12 chr12: 43,559,763-45,803,548 NELL2, LOC400026, 21 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
    nsv3956824copy number variation1nstd168human GRCh38 chr12: 45,054,770-45,118,575 , GRCh37.p13 chr12: 45,448,553-45,512,358 SSBL3P, RNA5SP361, 1 more genes
    nsv3921330copy number variation1nstd102humanPathogenic GRCh37 chr12: 41,107,689-46,945,683 , GRCh38 chr12: 40,713,887-46,551,900 , NCBI36 chr12: 39,393,956-45,231,950 RACGAP1P1, RNA5SP360, 61 more genes
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 more genes
    nsv3916928copy number variation1nstd102humanPathogenic NCBI36 chr12: 42,194,761-46,386,352 , GRCh37.p13 chr12: 43,908,494-48,100,085 , GRCh38.p12 chr12: 43,514,691-47,706,302 RPAP3-DT, TMEM117, 51 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
    nsv3909274copy number variation1nstd102humanUncertain significance GRCh37 chr12: 45,181,335-45,776,599 , GRCh38.p12 chr12: 44,787,552-45,382,816 DBX2, SSBL3P, 7 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
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