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Items: 1 to 20 of 171

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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
    nsv7044092inversion1nstd229human GRCh38 chr1: 203,118,726-211,305,271 , GRCh37.p13 chr1: 203,087,854-211,478,613 LOC100420418, LINC00260, 201 more genes
    nsv6674804copy number variation1nstd229human GRCh38 chr1: 203,488,801-203,494,205 , GRCh37.p13 chr1: 203,457,929-203,463,333 PRELP, OPTC
    nsv6671097copy number variation1nstd229human GRCh38 chr1: 203,507,601-203,511,832 , GRCh37.p13 chr1: 203,476,729-203,480,960 OPTC, LOC105371688
    nsv6670096copy number variation1nstd229human GRCh38 chr1: 203,498,495-203,501,998 , GRCh37.p13 chr1: 203,467,623-203,471,126 LOC105371688, OPTC
    nsv6669454copy number variation1nstd229human GRCh38 chr1: 203,406,944-203,632,767 , GRCh37.p13 chr1: 203,376,072-203,601,895 OPTC, ATP2B4, 3 more genes
    nsv6665943copy number variation1nstd229human GRCh38 chr1: 203,502,085-203,502,279 , GRCh37.p13 chr1: 203,471,213-203,471,407 LOC105371688, OPTC
    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
    nsv6319421copy number variation1nstd223human GRCh38 chr1: 203,488,801-203,494,203 , GRCh37.p13 chr1: 203,457,929-203,463,331 PRELP, OPTC
    nsv6295346copy number variation1nstd186human GRCh37 chr1: 203,469,538-203,469,612 , GRCh38.p12 chr1: 203,500,410-203,500,484 OPTC
    nsv6290400copy number variation1nstd102humanUncertain significance GRCh37 chr1: 203,378,879-203,602,144 , GRCh38.p12 chr1: 203,409,751-203,633,016 ATP2B4, PRELP, 2 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
    nsv6133623copy number variation1nstd213human GRCh37 chr1: 203,450,000-204,530,001 , GRCh38.p12 chr1: 203,480,872-204,560,873 ATP2B4, MDM4, 35 more genes
    nsv6133584copy number variation1nstd213human GRCh37 chr1: 202,800,000-203,520,001 , GRCh38.p12 chr1: 202,830,872-203,550,873 ADORA1, OPTC, 29 more genes
    nsv6058046insertion1nstd212human GRCh38 chr1: 203,500,303-203,500,303 , GRCh37.p13 chr1: 203,469,431-203,469,431 OPTC
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