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Items: 1 to 20 of 112

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099260copy number variation1nstd231human GRCh38.p12 chr1: 207,518,788-210,916,265 , GRCh37 chr1: 207,692,133-211,089,607 ADORA2BP1, ATP5MC2P1, 60 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
    nsv6660220copy number variation1nstd229human GRCh38 chr1: 207,738,001-208,652,200 , GRCh37.p13 chr1: 207,911,346-208,825,545 LOC105372887, LOC105372884, 14 more genes
    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
    nsv6554773inversion1nstd223human GRCh38 chr1: 204,500,842-208,290,127 , GRCh37.p13 chr1: 204,469,970-208,463,472 RNA5SP75, LOC105372869, 108 more genes
    nsv6310745copy number variation2nstd102humanUncertain significance GRCh37 chr1: 206,941,981-208,391,267 , GRCh38.p12 chr1: 206,768,636-208,217,922 PFKFB2, LOC105372878, 39 more genes
    nsv6133752copy number variation1nstd213human GRCh37 chr1: 207,160,000-210,270,001 , GRCh38.p12 chr1: 206,986,655-210,096,656 ADORA2BP1, C4BPA, 62 more genes
    nsv6133630copy number variation2nstd213human GRCh37 chr1: 206,490,000-223,720,001 , GRCh38.p12 chr1: 206,316,655-223,546,636 ATP5MC2P1, CENPF, 269 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5329500translocation1nstd204human GRCh38.p13 chr1: 194,772,506-194,772,506 , GRCh38.p13 chr1: 207,801,893-207,801,893 , GRCh37.p13 chr1: 194,741,636-194,741,636 , GRCh37.p13 chr1: 207,975,238-207,975,238 MIR29B2, MIR29C, 1 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4685577copy number variation1nstd102humannot provided GRCh37 chr1: 194,356,425-210,988,710 , GRCh38.p12 chr1: 194,387,295-210,815,368 SEPTIN14P12, LINC02602, 332 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4516715copy number variation1nstd166human GRCh37.p13 chr1: 207,930,080-214,726,645 , GRCh38.p12 chr1: 207,756,735-214,553,302 , UTP25, 121 more genes
    nsv4452160copy number variation1nstd102humanUncertain significance GRCh37 chr1: 206,329,070-213,263,817 , GRCh38.p12 chr1: 206,308,879-213,090,475 CDCA4P4, LOC105372889, 146 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv3901751copy number variation1nstd102humanPathogenic GRCh37 chr1: 207,756,872-210,332,526 , GRCh38 chr1: 207,583,527-210,159,181 , NCBI36 chr1: 205,823,495-208,399,149 LOC105372899, CD34, 49 more genes
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