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Items: 1 to 20 of 428

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148143copy number variation1nstd102humanPathogenic GRCh38 chr2: 111,940,205-112,055,854 , GRCh37.p13 chr2: 112,697,782-112,813,431 TMEM87B, RTRAFP1, 2 more genes
    nsv7148080copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,335,152-113,127,204 , GRCh38.p12 chr2: 110,577,575-112,369,627 MIR4771-2, BUB1, 33 more genes
    nsv7148068copy number variation1nstd102humanUncertain significance GRCh37 chr2: 111,395,541-113,090,065 , GRCh38.p12 chr2: 110,637,964-112,332,488 NDUFB4P6, SLC30A6P1, 28 more genes
    nsv7098850copy number variation1nstd102humanUncertain significance GRCh37 chr2: 111,368,292-113,191,030 , GRCh38.p12 chr2: 110,610,715-112,433,453 MERTK, MIR4435-2HG, 33 more genes
    nsv7044064inversion1nstd229human GRCh38 chr2: 112,019,946-120,004,832 , GRCh37.p13 chr2: 112,777,523-120,762,408 LOC105373563, IL1A, 112 more genes
    nsv7042586inversion1nstd229human GRCh38 chr2: 111,572,275-118,829,502 , GRCh37.p13 chr2: 112,329,852-119,587,078 LOC105373579, NT5DC4, 103 more genes
    nsv6696986copy number variation1nstd229human GRCh38 chr2: 111,846,957-112,154,949 , GRCh37.p13 chr2: 112,604,534-112,912,526 ANAPC1, FBLN7, 6 more genes
    nsv6693968copy number variation1nstd229human GRCh38 chr2: 111,926,116-112,061,470 , GRCh37.p13 chr2: 112,683,693-112,819,047 RTRAFP1, SLC30A6P1, 3 more genes
    nsv6692078copy number variation1nstd229human GRCh38 chr2: 111,773,748-112,219,620 , GRCh37.p13 chr2: 112,531,325-112,977,197 SLC30A6P1, RTRAFP1, 7 more genes
    nsv6690727copy number variation1nstd229human GRCh38 chr2: 112,104,795-112,105,395 , GRCh37.p13 chr2: 112,862,372-112,862,972 TMEM87B
    nsv6684804copy number variation1nstd229human GRCh38 chr2: 112,064,148-112,067,398 , GRCh37.p13 chr2: 112,821,725-112,824,975 TMEM87B
    nsv6681575copy number variation1nstd229human GRCh38 chr2: 112,001,601-112,086,300 , GRCh37.p13 chr2: 112,759,178-112,843,877 TMEM87B, MERTK
    nsv6680581copy number variation1nstd229human GRCh38 chr2: 112,091,106-112,104,037 , GRCh37.p13 chr2: 112,848,683-112,861,614 TMEM87B
    nsv6678146copy number variation1nstd229human GRCh38 chr2: 112,106,333-112,110,569 , GRCh37.p13 chr2: 112,863,910-112,868,146 TMEM87B
    nsv6637066copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 111,397,786-113,111,856 , GRCh38.p12 chr2: 110,640,209-112,354,279 BUB1, BCL2L11, 29 more genes
    nsv6636824copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,366,256-113,127,751 , GRCh38.p12 chr2: 110,608,679-112,370,174 PAFAH1B1P2, BUB1, 33 more genes
    nsv6636588copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 111,365,996-113,111,856 , GRCh38.p12 chr2: 110,608,419-112,354,279 BUB1, BCL2L11, 32 more genes
    nsv6636379copy number variation1nstd102humanUncertain significance GRCh37 chr2: 112,632,313-113,015,512 , GRCh38.p12 chr2: 111,874,736-112,257,935 ANAPC1, FBLN7, 7 more genes
    nsv6636225copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,369,264-113,142,794 , GRCh38.p12 chr2: 110,611,687-112,385,217 RPL34P8, SNORD132, 32 more genes
    nsv6627672copy number variation1nstd224human GRCh37 chr2: 111,395,603-113,217,630 , GRCh38.p12 chr2: 110,638,026-112,460,053 ACOXL, TMEM87B, 30 more genes
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