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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7137173copy number variation1nstd102humanPathogenic GRCh38 chr1: 233,502,994-236,105,019 , GRCh37.p13 chr1: 233,638,740-236,268,319 ARID4B, MTND3P8, 58 more genes
    nsv7099266copy number variation1nstd231human GRCh38.p12 chr1: 226,993,371-235,936,592 , GRCh37 chr1: 227,181,072-236,099,892 ACTA1, AGT, 223 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7048010inversion1nstd229human GRCh38 chr1: 233,396,223-235,667,657 , GRCh37.p13 chr1: 233,531,969-235,830,957 RN7SL668P, LINC02961, 52 more genes
    nsv7044547inversion1nstd229human GRCh38 chr1: 234,053,817-240,091,334 , GRCh37.p13 chr1: 234,189,563-240,254,634 RNU6-725P, RNU6-968P, 101 more genes
    nsv7044310inversion1nstd229human GRCh38 chr1: 230,890,958-235,370,433 , GRCh37.p13 chr1: 231,026,704-235,533,748 TARBP1, LOC105373170, 86 more genes
    nsv6660567copy number variation1nstd229human GRCh38 chr1: 234,838,301-235,712,200 , GRCh37.p13 chr1: 234,974,048-235,875,500 LYST, SNORA14B, 25 more genes
    nsv6637109copy number variation1nstd102humanUncertain significance GRCh37 chr1: 232,895,447-238,787,061 , GRCh38.p12 chr1: 232,759,701-238,623,761 RPL9P10, LOC105373207, 105 more genes
    nsv6637037copy number variation1nstd102humanUncertain significance GRCh37 chr1: 232,827,966-240,750,334 , GRCh38.p12 chr1: 232,692,220-240,587,034 RNU1-74P, EDARADD, 123 more genes
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6636265copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 227,992,928-236,659,905 , GRCh38.p12 chr1: 227,805,227-236,496,605 ACTA1, AGT, 211 more genes
    nsv6636217copy number variation1nstd102humanPathogenic GRCh37 chr1: 232,732,121-243,338,216 , GRCh38.p12 chr1: 232,596,375-243,174,914 LINC01347, LOC100130331, 169 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
    nsv6634337copy number variation1nstd102humanPathogenic GRCh37 chr1: 233,012,994-249,206,918 , GRCh38.p12 chr1: 232,877,248-248,912,719 OR2M4, KIF28P, 316 more genes
    nsv6332184copy number variation1nstd223human GRCh38 chr1: 235,069,880-235,080,599 , GRCh37.p13 chr1|NW_004070865.1: 38,586-47,356 LINC01348
    nsv6315305copy number variation1nstd102humanUncertain significance GRCh38 chr1: 233,450,789-235,471,180 , GRCh37.p13 chr1: 233,586,535-235,634,494 IRF2BP2, RAC1P7, 41 more genes
    nsv6133984copy number variation1nstd213human GRCh37 chr1: 234,460,000-239,100,001 , GRCh38.p12 chr1: 234,324,254-238,936,701 ACTN2, LYST, 87 more genes
    nsv6112661copy number variation1nstd102humanPathogenic GRCh37 chr1: 231,407,943-237,289,859 , GRCh38.p12 chr1: 231,272,197-237,126,559 LOC105373207, LOC105373210, 113 more genes
    nsv5446185copy number variation1nstd206human GRCh38 chr1: 235,068,089-235,070,341 , GRCh37.p13 chr1|NW_004070865.1: 36,795-39,047 LINC01348
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