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Items: 1 to 20 of 371

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5964133copy number variation1nstd209human GRCh38 chr22: 23,086,851-23,086,964 , GRCh37.p13 chr22: 23,429,038-23,429,151 GNAZ, RSPH14
    nsv5963542copy number variation1nstd209human GRCh38 chr22: 23,091,094-23,091,209 , GRCh37.p13 chr22: 23,433,281-23,433,396 RSPH14, GNAZ
    nsv5958899copy number variation1nstd209human GRCh38 chr22: 22,653,852-24,634,860 , GRCh37.p13 chr22: 22,996,322-25,030,827 , LOC105372957, 122 more genes
    nsv5956621copy number variation1nstd209human GRCh38 chr22: 22,621,614-24,637,144 , GRCh37.p13 chr22: 22,964,084-25,033,111 , IGLV2-5, 125 more genes
    nsv5550368copy number variation1nstd206human GRCh38 chr22: 23,086,782-23,086,861 , GRCh37.p13 chr22: 23,428,969-23,429,048 GNAZ, RSPH14
    nsv5547662copy number variation1nstd206human GRCh38 chr22: 23,116,098-23,117,265 , GRCh37.p13 chr22: 23,458,285-23,459,452 GNAZ, RSPH14
    nsv5542984copy number variation1nstd206human GRCh38 chr22: 22,833,000-23,312,782 , GRCh37.p13 chr22: 23,175,176-23,654,969 IGLJ1, RAB36, 36 more genes
    nsv5539180copy number variation1nstd206human GRCh38 chr22: 23,084,904-23,085,345 , GRCh37.p13 chr22: 23,427,091-23,427,532 RSPH14, GNAZ
    nsv5360424translocation1nstd200human GRCh38 chr22: 23,117,265-23,117,265 , GRCh38 chr22: 23,116,098-23,116,098 , GRCh37.p13 chr22: 23,459,452-23,459,452 , GRCh37.p13 chr22: 23,458,285-23,458,285 GNAZ, RSPH14
    nsv5032290copy number variation1nstd200human GRCh38 chr22: 23,102,232-23,102,303 , GRCh37.p13 chr22: 23,444,419-23,444,490 GNAZ, RSPH14
    nsv5030747copy number variation1nstd200human GRCh38 chr22: 22,073,315-23,302,980 , GRCh37.p13 chr22: 22,427,726-23,645,167 , IGLV6-57, 124 more genes
    nsv4869158copy number variation1nstd200human GRCh37 chr22: 23,458,285-23,459,452 , GRCh38.p12 chr22: 23,116,098-23,117,265 RSPH14, GNAZ
    nsv4869157copy number variation1nstd200human GRCh37 chr22: 23,444,419-23,444,490 , GRCh38.p12 chr22: 23,102,232-23,102,303 GNAZ, RSPH14
    nsv4869156copy number variation1nstd200human GRCh37 chr22: 23,433,287-23,433,397 , GRCh38.p12 chr22: 23,091,100-23,091,210 RSPH14, GNAZ
    nsv4768383copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-26,483,608 , GRCh38.p12 chr22: 16,408,173-26,087,642 KRT18P62, LOC101060852, 437 more genes
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4729872copy number variation1nstd102humanPathogenic GRCh37 chr22: 23,258,368-25,059,827 , GRCh38.p12 chr22: 22,916,198-24,663,860 LOC105372957, RAB36, 71 more genes
    nsv4729862copy number variation1nstd102humanPathogenic GRCh37 chr22: 21,798,906-23,805,099 , GRCh38.p12 chr22: 21,444,617-23,462,912 LL22NC03-63E9.3, IGLC4, 158 more genes
    nsv4729829copy number variation1nstd102humanUncertain significance GRCh37 chr22: 22,898,364-23,653,963 , GRCh38.p12 chr22: 22,555,943-23,311,776 IGLJ5, LOC100287966, 75 more genes
    nsv4679621copy number variation1nstd189human GRCh37.p13 chr22: 23,008,722-25,047,777 , GRCh38.p12 chr22: 22,666,252-24,651,810 , ADORA2A, 120 more genes
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