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Items: 1 to 20 of 197

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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
    nsv5181968mobile element insertion1nstd203human GRCh38 chr2: 43,222,233-43,222,252 , GRCh37.p13 chr2: 43,449,372-43,449,391 ZFP36L2
    nsv4776359copy number variation1nstd200human GRCh37 chr2: 43,451,784-43,452,070 , GRCh38.p12 chr2: 43,224,645-43,224,931 ZFP36L2
    nsv4679262copy number variation1nstd189human GRCh38.p12 chr2: 43,209,612-43,481,258 , GRCh37.p13 chr2: 43,436,751-43,708,397 , ZFP36L2, 3 more genes
    nsv4595583copy number variation1nstd183human GRCh37 chr2: 43,450,114-43,456,040 , GRCh38.p12 chr2: 43,222,975-43,228,901 LINC01126, ZFP36L2, 1 more genes
    nsv4586054copy number variation1nstd183human GRCh37 chr2: 43,451,425-43,454,915 , GRCh38.p12 chr2: 43,224,286-43,227,776 ZFP36L2, LINC01126
    nsv4586053copy number variation1nstd183human GRCh37 chr2: 43,335,867-43,503,569 , GRCh38.p12 chr2: 43,108,728-43,276,430 , THADA, 3 more genes
    nsv4583711copy number variation1nstd183human GRCh37 chr2: 43,449,330-43,450,550 , GRCh38.p12 chr2: 43,222,191-43,223,411 ZFP36L2
    nsv4402791copy number variation1nstd174human GRCh37 chr2: 43,450,138-43,455,109 , GRCh38.p12 chr2: 43,222,999-43,227,970 ZFP36L2, LINC01126
    nsv4398598copy number variation1nstd174human GRCh37 chr2: 43,450,138-43,454,915 , GRCh38.p12 chr2: 43,222,999-43,227,776 LINC01126, ZFP36L2
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4331174inversion1nstd166human GRCh37.p13 chr2: 36,139,982-53,112,348 , GRCh38.p12 chr2: 35,914,916-52,885,210 , ASS1P2, 247 more genes
    nsv3919677inversion1nstd102humanPathogenic GRCh38.p12 chr2: 37,893,967-47,442,383 , GRCh37 chr2: 38,121,110-47,669,522 ASS1P2, BCYRN1, 151 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
    nsv3908288copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,816-46,210,371 , GRCh38 chr2: 236,816-45,983,232 , NCBI36 chr2: 226,816-46,063,875 ALLC, LOC105373429, 674 more genes
    nsv3905626copy number variation1nstd102humanPathogenic GRCh37 chr2: 40,965,422-58,090,956 , GRCh38 chr2: 40,738,282-57,863,821 , NCBI36 chr2: 40,818,926-57,944,460 RNU6-433P, RNU6-997P, 220 more genes
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3887131copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 43,386,188-45,013,725 , GRCh38.p12 chr2: 43,159,049-44,786,586 ZFP36L2, PPM1B, 22 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
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