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Items: 1 to 20 of 139

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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
    nsv5438453copy number variation1nstd206human GRCh38 chr2: 27,050,772-27,050,920 , GRCh37.p13 chr2: 27,273,640-27,273,788 AGBL5, TRY-GTA2-1
    nsv5434693copy number variation1nstd206human GRCh38 chr2: 27,068,399-27,068,461 , GRCh37.p13 chr2: 27,291,267-27,291,329 AGBL5
    nsv5374855translocation1nstd200human GRCh38 chr2: 27,065,379-27,065,379 , GRCh38 chr2: 27,068,327-27,068,327 , GRCh37.p13 chr2: 27,291,195-27,291,195 , GRCh37.p13 chr2: 27,288,247-27,288,247 AGBL5
    nsv5374851translocation1nstd200human GRCh38 chr2: 27,060,132-27,060,132 , GRCh38 chr2: 27,065,558-27,065,558 , GRCh37.p13 chr2: 27,288,426-27,288,426 , GRCh37.p13 chr2: 27,283,000-27,283,000 AGBL5
    nsv5337143translocation1nstd200human GRCh37 chr2: 27,273,661-27,273,661 , GRCh37 chr2: 27,273,768-27,273,768 , GRCh38.p12 chr2: 27,050,793-27,050,793 , GRCh38.p12 chr2: 27,050,900-27,050,900 AGBL5, TRY-GTA2-1
    nsv5334111translocation1nstd200human GRCh37 chr2: 27,283,000-27,283,000 , GRCh37 chr2: 27,288,426-27,288,426 , GRCh38.p12 chr2: 27,065,558-27,065,558 , GRCh38.p12 chr2: 27,060,132-27,060,132 AGBL5
    nsv5333569translocation1nstd200human GRCh37 chr2: 27,288,247-27,288,247 , GRCh37 chr2: 27,291,195-27,291,195 , GRCh38.p12 chr2: 27,065,379-27,065,379 , GRCh38.p12 chr2: 27,068,327-27,068,327 AGBL5
    nsv5288734copy number variation1nstd204human GRCh37.p13 chr2: 27,273,657-27,273,771 , GRCh38.p13 chr2: 27,050,789-27,050,903 AGBL5, TRY-GTA2-1
    nsv4900784copy number variation1nstd200human GRCh38 chr2: 27,066,019-27,066,674 , GRCh37.p13 chr2: 27,288,887-27,289,542 AGBL5
    nsv4900783copy number variation1nstd200human GRCh38 chr2: 27,050,793-27,050,900 , GRCh37.p13 chr2: 27,273,661-27,273,768 AGBL5, TRY-GTA2-1
    nsv4585731copy number variation1nstd183human GRCh37 chr2: 27,273,917-27,274,542 , GRCh38.p12 chr2: 27,051,049-27,051,674 AGBL5, TRY-GTA2-1
    nsv4583823copy number variation1nstd183human GRCh37 chr2: 27,274,221-27,274,450 , GRCh38.p12 chr2: 27,051,353-27,051,582 TRY-GTA2-1, AGBL5
    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
    nsv4056623copy number variation1nstd166human GRCh37.p13 chr2: 27,293,591-27,294,192 , GRCh38.p12 chr2: 27,070,723-27,071,324 OST4, AGBL5
    nsv4054960copy number variation1nstd166human GRCh37.p13 chr2: 27,273,240-27,280,145 , GRCh38.p12 chr2: 27,050,372-27,057,277 AGBL5, AGBL5-AS1, 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
    nsv3908605copy number variation1nstd102humanPathogenic GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277 SLC35F6, LOC105374458, 801 more genes
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