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Items: 1 to 20 of 230

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5578577copy number variation1nstd207human GRCh38 chr1: 228,174,111-228,174,174 , GRCh37.p13 chr1: 228,361,812-228,361,875 IBA57
    nsv5575872copy number variation1nstd207human GRCh38 chr1: 228,174,192-228,174,511 , GRCh37.p13 chr1: 228,361,893-228,362,212 IBA57
    nsv5571768copy number variation1nstd207human GRCh38 chr1: 228,174,111-228,174,254 , GRCh37.p13 chr1: 228,361,812-228,361,955 IBA57
    nsv5449716copy number variation1nstd206human GRCh38 chr1: 228,180,849-228,184,999 , GRCh37.p13 chr1: 228,368,550-228,372,700 IBA57
    nsv5435409copy number variation1nstd206human GRCh38 chr1: 228,174,168-228,174,552 , GRCh37.p13 chr1: 228,361,869-228,362,253 IBA57
    nsv5384052copy number variation1nstd186human GRCh37 chr1: 228,361,841-228,362,186 , GRCh38.p12 chr1: 228,174,140-228,174,485 IBA57
    nsv5381291copy number variation1nstd102humanUncertain significance GRCh37 chr1: 228,345,440-228,363,234 , GRCh38.p12 chr1: 228,157,739-228,175,533 IBA57-DT, GJC2, 1 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5355785translocation1nstd200human GRCh38 chr1: 228,180,860-228,180,860 , GRCh38 chr1: 228,184,999-228,184,999 , GRCh37.p13 chr1: 228,372,700-228,372,700 , GRCh37.p13 chr1: 228,368,561-228,368,561 IBA57
    nsv5343110translocation1nstd200human GRCh37 chr1: 228,362,132-228,362,132 , GRCh37 chr1: 228,361,895-228,361,895 , GRCh38.p12 chr1: 228,174,194-228,174,194 , GRCh38.p12 chr1: 228,174,431-228,174,431 IBA57
    nsv5325779translocation1nstd204human GRCh38.p13 chr1: 228,174,168-228,174,168 , GRCh38.p13 chr1: 228,174,386-228,174,386 , GRCh37.p13 chr1: 228,361,869-228,361,869 , GRCh37.p13 chr1: 228,362,087-228,362,087 IBA57
    nsv5211296copy number variation1nstd204human GRCh38.p13 chr1: 228,174,201-228,174,500 , GRCh37.p13 chr1: 228,361,902-228,362,201 IBA57
    nsv4899131copy number variation1nstd200human GRCh38 chr1: 228,174,140-228,174,485 , GRCh37.p13 chr1: 228,361,841-228,362,186 IBA57
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4747095copy number variation1nstd199human GRCh37 chr1: 228,361,813-228,362,120 , GRCh38.p12 chr1: 228,174,112-228,174,419 IBA57
    nsv4733884copy number variation1nstd199human GRCh37 chr1: 228,370,001-228,370,160 , GRCh38.p12 chr1: 228,182,300-228,182,459 IBA57
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
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