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Items: 1 to 20 of 228

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099257copy number variation1nstd231human GRCh38.p12 chr1: 203,396,218-207,103,915 , GRCh37 chr1: 203,365,346-207,277,260 ATP2B4, AVPR1B, 116 more genes
    nsv7095955copy number variation1nstd102humanUncertain significance GRCh37 chr1: 200,522,516-206,945,780 , GRCh38.p12 chr1: 200,553,388-206,772,435 ELF3, MAPKAPK2, 189 more genes
    nsv7095569copy number variation2nstd102humanUncertain significance GRCh37 chr1: 200,522,516-208,391,267 , GRCh38.p12 chr1: 200,553,388-208,217,922 TRK-TTT8-1, ADIPOR1, 228 more genes
    nsv7055687inversion1nstd229human GRCh38 chr1: 204,089,865-204,097,262 , GRCh37.p13 chr1: 204,058,993-204,066,390 SOX13
    nsv7054538inversion1nstd229human GRCh38 chr1: 204,109,575-204,114,750 , GRCh37.p13 chr1: 204,078,703-204,083,878 SOX13
    nsv7044092inversion1nstd229human GRCh38 chr1: 203,118,726-211,305,271 , GRCh37.p13 chr1: 203,087,854-211,478,613 LOC100420418, LINC00260, 201 more genes
    nsv6672854copy number variation1nstd229human GRCh38 chr1: 204,083,996-204,084,943 , GRCh37.p13 chr1: 204,053,124-204,054,071 SOX13
    nsv6671303copy number variation1nstd229human GRCh38 chr1: 203,890,844-204,196,485 , GRCh37.p13 chr1: 203,859,972-204,165,613 SOX13, GOLT1A, 8 more genes
    nsv6670126copy number variation1nstd229human GRCh38 chr1: 204,116,863-204,127,525 , GRCh37.p13 chr1: 204,085,991-204,096,653 SOX13
    nsv6664399copy number variation1nstd229human GRCh38 chr1: 204,124,741-204,125,258 , GRCh37.p13 chr1: 204,093,869-204,094,386 SOX13
    nsv6659214copy number variation1nstd229human GRCh38 chr1: 204,104,857-204,104,898 , GRCh37.p13 chr1: 204,073,985-204,074,026 SOX13
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6319772copy number variation1nstd223human GRCh38 chr1: 203,942,095-204,097,521 , GRCh37.p13 chr1: 203,911,223-204,066,649 LOC105371689, CBX1P3, 2 more genes
    nsv6316835copy number variation1nstd223human GRCh38 chr1: 204,080,368-204,082,114 , GRCh37.p13 chr1: 204,049,496-204,051,242 SOX13
    nsv6150251copy number variation1nstd214human GRCh38 chr1: 204,119,763-204,119,895 , GRCh37.p13 chr1: 204,088,891-204,089,023 SOX13
    nsv6133967copy number variation1nstd213human GRCh37 chr1: 203,630,000-205,910,001 , GRCh38.p12 chr1: 203,660,872-205,940,873 PLEKHA6, KLHDC8A, 73 more genes
    nsv6133960copy number variation1nstd213human GRCh37 chr1: 196,820,000-204,810,001 , GRCh38.p12 chr1: 196,850,870-204,840,873 ELF3, NR5A2, 181 more genes
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133846copy number variation1nstd213human GRCh37 chr1: 203,140,000-205,920,001 , GRCh38.p12 chr1: 203,170,872-205,950,873 CHIT1, ELK4, 90 more genes
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