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Items: 1 to 20 of 132

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5881576copy number variation1nstd209human GRCh38 chr2: 31,743,142-31,898,199 , GRCh37.p13 chr2: 31,968,211-32,123,268 MEMO1, AK2P2, 3 more genes
    nsv5446572copy number variation1nstd206human GRCh38 chr2: 31,800,119-31,808,119 , GRCh37.p13 chr2: 32,025,188-32,033,188 LINC01946
    nsv5442689copy number variation1nstd206human GRCh38 chr2: 31,664,000-31,801,000 , GRCh37.p13 chr2: 31,889,069-32,026,069 SRD5A2, LINC01946, 2 more genes
    nsv4775991copy number variation1nstd200human GRCh37 chr2: 32,026,455-32,032,619 , GRCh38.p12 chr2: 31,801,386-31,807,550 LINC01946
    nsv4682845copy number variation1nstd102humanUncertain significance GRCh37 chr2: 31,558,804-32,481,864 , GRCh38.p12 chr2: 31,335,938-32,256,795 KRT18P52, SLC30A6, 12 more genes
    nsv4454991copy number variation1nstd102humanPathogenic GRCh37 chr2: 29,940,473-36,813,297 , GRCh38.p12 chr2: 29,717,607-36,586,154 LOC105374435, LOC105374455, 71 more genes
    nsv4453170copy number variation1nstd102humanPathogenic GRCh37 chr2: 31,958,977-33,946,495 , GRCh38.p12 chr2: 31,733,908-33,721,428 ATP6V0E1P3, LOC105374455, 30 more genes
    nsv4410222copy number variation1nstd174human GRCh37 chr2: 31,888,775-32,026,012 , GRCh38.p12 chr2: 31,663,706-31,800,943 SRD5A2, LOC107985863, 2 more genes
    nsv4387604copy number variation1nstd173human GRCh37 chr2: 31,880,861-32,022,597 , GRCh38.p12 chr2: 31,655,792-31,797,528 LINC01946, LOC107985862, 2 more genes
    nsv4380535copy number variation1nstd173human GRCh37 chr2: 31,879,874-32,027,244 , GRCh38.p12 chr2: 31,654,805-31,802,175 SRD5A2, LOC107985862, 2 more genes
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4318621inversion1nstd166human GRCh37.p13 chr2: 21,612,232-41,909,281 , GRCh38.p12 chr2: 21,389,360-41,682,141 , CAD, 329 more genes
    nsv4063826copy number variation1nstd166human GRCh37.p13 chr2: 32,026,000-32,032,300 , GRCh38.p12 chr2: 31,800,931-31,807,231 LINC01946
    nsv4058536copy number variation1nstd166human GRCh37.p13 chr2: 32,026,648-32,035,656 , GRCh38.p12 chr2: 31,801,579-31,810,587 LINC01946
    nsv4055116copy number variation1nstd166human GRCh37.p13 chr2: 32,025,000-32,051,000 , GRCh38.p12 chr2: 31,799,931-31,825,931 KRT18P52, AK2P2, 1 more genes
    nsv3958207insertion1nstd168human GRCh38 chr2: 31,781,794-31,827,347 , GRCh37.p13 chr2: 32,006,863-32,052,416 AK2P2, KRT18P52, 1 more genes
    nsv3919769copy number variation1nstd102humanPathogenic NCBI36 chr2: 22,776,056-33,845,581 , GRCh37.p13 chr2: 22,922,551-33,992,077 , GRCh38.p12 chr2: 22,699,679-33,767,010 RNA5SP88, EIF2B4, 213 more genes
    nsv3911681inversion1nstd102humanPathogenic GRCh38.p12 chr2: 29,223,528-42,325,554 , GRCh37 chr2: 29,446,394-42,552,694 ALK, ASS1P2, 163 more genes
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