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Items: 1 to 20 of 573

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6715800copy number variation1nstd229human GRCh38 chr2: 241,462,667-241,628,308 , GRCh37.p13 chr2: 242,402,082-242,567,723 STK25, KCTD5P1, 8 more genes
    nsv6712716copy number variation1nstd229human GRCh38 chr2: 241,618,601-241,623,900 , GRCh37.p13 chr2: 242,558,016-242,563,315 THAP4
    nsv6710949copy number variation1nstd229human GRCh38 chr2: 241,555,902-241,629,832 , GRCh37.p13 chr2: 242,495,317-242,569,247 THAP4, BOK-AS1, 2 more genes
    nsv6709400copy number variation1nstd229human GRCh38 chr2: 241,636,381-241,653,868 , GRCh37.p13 chr2: 242,575,796-242,593,283 THAP4, ATG4B
    nsv6706225copy number variation1nstd229human GRCh38 chr2: 241,627,388-241,631,024 , GRCh37.p13 chr2: 242,566,803-242,570,439 THAP4
    nsv6704305copy number variation1nstd229human GRCh38 chr2: 241,604,644-241,604,792 , GRCh37.p13 chr2: 242,544,059-242,544,207 THAP4
    nsv6636841copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,878,509-242,783,384 , GRCh38.p12 chr2: 235,969,865-241,841,232 COPS8-DT, MTND5P46, 128 more genes
    nsv6636733copy number variation1nstd102humanUncertain significance GRCh37 chr2: 242,379,032-242,783,384 , GRCh38.p12 chr2: 241,439,617-241,841,232 ATG4B, THAP4, 15 more genes
    nsv6636673copy number variation1nstd102humanPathogenic GRCh37 chr2: 235,942,616-242,783,384 , GRCh38.p12 chr2: 235,033,972-241,841,232 LINC02991, OR6B3, 136 more genes
    nsv6636482copy number variation1nstd102humanUncertain significance GRCh37 chr2: 242,533,423-242,783,384 , GRCh38.p12 chr2: 241,594,008-241,841,232 D2HGDH, NEU4, 6 more genes
    nsv6634398copy number variation1nstd102humanPathogenic GRCh37 chr2: 239,229,304-243,199,373 , GRCh38.p12 chr2: 238,320,663-242,157,305 HDAC4-AS1, ING5, 92 more genes
    nsv6628029copy number variation1nstd224human GRCh37 chr2: 242,312,572-242,795,350 , GRCh38.p12 chr2: 241,373,157-241,853,198 ATG4B, ING5, 17 more genes
    nsv6546742inversion1nstd223human GRCh38 chr2: 241,626,362-241,626,628 , GRCh37.p13 chr2: 242,565,777-242,566,043 THAP4
    nsv6546685inversion1nstd223human GRCh38 chr2: 241,595,049-241,595,512 , GRCh37.p13 chr2: 242,534,464-242,534,927 THAP4
    nsv6351987copy number variation1nstd223human GRCh38 chr2: 241,568,996-241,736,303 , GRCh37.p13 chr2: 242,508,411-242,675,718 ATG4B, ING5, 5 more genes
    nsv6351638copy number variation1nstd223human GRCh38 chr2: 241,590,100-241,590,875 , GRCh37.p13 chr2: 242,529,515-242,530,290 THAP4
    nsv6349176copy number variation1nstd223human GRCh38 chr2: 241,636,301-241,639,200 , GRCh37.p13 chr2: 242,575,716-242,578,615 ATG4B, THAP4
    nsv6348430copy number variation1nstd223human GRCh38 chr2: 237,953,314-241,782,040 , GRCh37.p13 chr2: 238,861,956-242,721,455 HDLBP-AS1, TWIST2, 90 more genes
    nsv6347830copy number variation1nstd223human GRCh38 chr2: 241,590,577-241,591,162 , GRCh37.p13 chr2: 242,529,992-242,530,577 THAP4
    nsv6343320copy number variation1nstd223human GRCh38 chr2: 241,462,667-241,628,310 , GRCh37.p13 chr2: 242,402,082-242,567,725 BOK, LOC107985788, 8 more genes
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