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Items: 1 to 20 of 273

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5957962copy number variation1nstd209human GRCh38 chr21: 42,921,693-42,921,748 , GRCh37.p13 chr21: 44,341,803-44,341,858 ERVH48-1
    nsv5956392copy number variation1nstd209human GRCh38 chr21: 42,920,027-42,920,078 , GRCh37.p13 chr21: 44,340,137-44,340,188 ERVH48-1
    nsv5668052insertion1nstd207human GRCh38 chr21: 42,921,693-42,921,693 , GRCh37.p13 chr21: 44,341,803-44,341,803 ERVH48-1
    nsv5593435copy number variation1nstd207human GRCh38 chr21: 42,920,027-42,920,078 , GRCh37.p13 chr21: 44,340,137-44,340,188 ERVH48-1
    nsv5563243sequence alteration1nstd206human GRCh38 chr21: 42,919,215-42,921,486 , GRCh37.p13 chr21: 44,339,325-44,341,596 ERVH48-1
    nsv5539428copy number variation1nstd206human GRCh38 chr21: 42,921,799-42,922,000 , GRCh37.p13 chr21: 44,341,909-44,342,110 ERVH48-1
    nsv5036690copy number variation1nstd200human GRCh38 chr21: 42,921,799-42,922,000 , GRCh37.p13 chr21: 44,341,909-44,342,110 ERVH48-1
    nsv5036063copy number variation1nstd200human GRCh38 chr21: 42,912,734-42,915,304 , GRCh37.p13 chr21: 44,332,844-44,335,414 NDUFV3, ERVH48-1
    nsv5031626copy number variation1nstd200human GRCh38 chr21: 42,912,781-42,923,590 , GRCh37.p13 chr21: 44,332,891-44,343,700 ERVH48-1, NDUFV3
    nsv5031182copy number variation1nstd200human GRCh38 chr21: 42,926,004-42,928,336 , GRCh37.p13 chr21: 44,346,114-44,348,446 ERVH48-1
    nsv4863390copy number variation1nstd200human GRCh37 chr21: 44,346,114-44,348,447 , GRCh38.p12 chr21: 42,926,004-42,928,337 ERVH48-1
    nsv4863389copy number variation1nstd200human GRCh37 chr21: 44,332,891-44,343,700 , GRCh38.p12 chr21: 42,912,781-42,923,590 NDUFV3, ERVH48-1
    nsv4863388copy number variation1nstd200human GRCh37 chr21: 44,332,856-44,335,413 , GRCh38.p12 chr21: 42,912,746-42,915,303 NDUFV3, ERVH48-1
    nsv4765246insertion1nstd199human GRCh37 chr21: 44,341,849-44,341,849 , GRCh38.p12 chr21: 42,921,739-42,921,739 ERVH48-1
    nsv4733555copy number variation1nstd199human GRCh37 chr21: 44,340,158-44,340,209 , GRCh38.p12 chr21: 42,920,048-42,920,099 ERVH48-1
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4681891copy number variation1nstd102humanUncertain significance GRCh37 chr21: 43,792,871-46,330,697 , GRCh38.p12 chr21: 42,372,762-44,910,782 DNMT3L-AS1, WDR4, 100 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
    nsv4676376copy number variation1nstd102humanPathogenic GRCh37 chr21: 43,472,147-48,097,372 , GRCh38.p12 chr21: 42,052,038-46,677,460 LOC101928369, MTND6P21, 157 more genes
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