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Items: 1 to 20 of 208

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7093591insertion1nstd102humanPathogenic GRCh37 chr17: 42,333,054-42,333,054 , GRCh38 chr17: 44,255,686-44,255,686 SLC4A1
    nsv6995685copy number variation1nstd229human GRCh38 chr17: 44,244,895-44,285,999 , GRCh37.p13 chr17: 42,322,263-42,363,367 LOC105371790, SLC4A1
    nsv6982861copy number variation1nstd229human GRCh38 chr17: 38,291,672-47,498,259 , GRCh37.p13 chr17: 36,510,266-45,575,625 KRT20, PLEKHH3, 442 more genes
    nsv6310222copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 42,330,466-42,330,759 , GRCh38.p12 chr17: 44,253,098-44,253,391 SLC4A1
    nsv6291646copy number variation1nstd102humanUncertain significance GRCh37 chr17: 42,085,508-42,361,563 , GRCh38.p12 chr17: 44,008,140-44,284,195 LOC105371790, HDAC5, 16 more genes
    nsv6287392insertion1nstd214human GRCh38 chr17: 44,263,721-44,263,721 , GRCh37.p13 chr17: 42,341,089-42,341,089 SLC4A1
    nsv6133311copy number variation3nstd213human GRCh37 chr17: 41,970,000-42,760,001 , GRCh38.p12 chr17: 43,892,632-44,682,633 FZD2, GRN, 43 more genes
    nsv5658746insertion1nstd207human GRCh38 chr17: 44,264,995-44,264,995 , GRCh37.p13 chr17: 42,342,363-42,342,363 SLC4A1
    nsv5654471insertion1nstd207human GRCh38 chr17: 44,263,721-44,263,721 , GRCh37.p13 chr17: 42,341,089-42,341,089 SLC4A1
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5515144copy number variation1nstd206human GRCh38 chr17: 44,246,425-44,246,489 , GRCh37.p13 chr17: 42,323,793-42,323,857 SLC4A1
    nsv5281720copy number variation1nstd204human GRCh38.p13 chr17: 44,221,501-44,251,800 , GRCh37.p13 chr17: 42,298,869-42,329,168 UBTF, ATXN7L3-AS1, 2 more genes
    nsv5016517copy number variation1nstd200human GRCh38 chr17: 44,263,835-44,264,054 , GRCh37.p13 chr17: 42,341,203-42,341,422 SLC4A1
    nsv4681862copy number variation1nstd102humanUncertain significance GRCh37 chr17: 42,105,175-42,430,244 , GRCh38.p12 chr17: 44,027,807-44,352,876 G6PC3, ATXN7L3, 21 more genes
    nsv4552907insertion1nstd166human GRCh37.p13 chr17: 42,341,089-42,341,089 , GRCh38.p12 chr17: 44,263,721-44,263,721 SLC4A1
    nsv4432536copy number variation1nstd172human GRCh37.p13 chr17: 42,329,442-42,331,339 , GRCh38.p12 chr17: 44,252,074-44,253,971 SLC4A1
    nsv4370994copy number variation1nstd173human GRCh37 chr17: 42,204,597-42,399,013 , GRCh38.p12 chr17: 44,127,229-44,321,645 RNU6-453P, RN7SL507P, 15 more genes
    nsv4368311copy number variation1nstd173human GRCh37 chr17: 41,384,516-42,395,351 , GRCh38.p12 chr17: 43,307,154-44,317,983 , LOC105371789, 55 more genes
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv3919609copy number variation1nstd102humanPathogenic GRCh37 chr17: 41,648,246-42,839,745 , GRCh38 chr17: 43,570,878-44,762,377 , NCBI36 chr17: 39,003,772-40,195,271 SMCO4P1, LINC01180, 59 more genes
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