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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7048316inversion1nstd229human GRCh38 chr2: 217,690,925-222,070,373 , GRCh37.p13 chr2: 218,555,648-222,935,092 LOC105373895, CXCR2P1, 119 more genes
    nsv6690102copy number variation1nstd229human GRCh38 chr2: 218,455,001-218,684,900 , GRCh37.p13 chr2: 219,319,724-219,549,623 USP37, CNOT9, 8 more genes
    nsv6685864copy number variation1nstd229human GRCh38 chr2: 216,932,763-218,687,760 , GRCh37.p13 chr2: 217,797,486-219,552,483 LOC105373872, IGFBP-AS1, 45 more genes
    nsv6353242copy number variation1nstd223human GRCh38 chr2: 218,656,646-218,658,656 , GRCh37.p13 chr2: 219,521,369-219,523,379 ZNF142, BCS1L
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315120copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,524,378-219,528,167 , GRCh38.p12 chr2: 218,659,655-218,663,444 ZNF142, BCS1L, 1 more genes
    nsv6313768copy number variation1nstd102humanUncertain significance GRCh37 chr2: 218,210,665-220,141,650 , GRCh38.p12 chr2: 217,345,942-219,276,928 PNKD, RNU6-136P, 73 more genes
    nsv6313686copy number variation1nstd102humanPathogenic GRCh37 chr2: 215,108,009-221,679,980 , GRCh38.p12 chr2: 214,243,285-220,815,260 BCS1L, LOC105373880, 160 more genes
    nsv6311374copy number variation2nstd102humanUncertain significance GRCh37 chr2: 218,999,525-220,435,954 , GRCh38.p12 chr2: 218,134,802-219,571,232 CHPF, WNT6, 83 more genes
    nsv5987776copy number variation1nstd212human GRCh38 chr2: 218,656,991-218,658,655 , GRCh37.p13 chr2: 219,521,714-219,523,378 ZNF142, BCS1L
    nsv5891363copy number variation1nstd209human GRCh38 chr2: 218,656,646-218,658,655 , GRCh37.p13 chr2: 219,521,369-219,523,378 BCS1L, ZNF142
    nsv5832208copy number variation1nstd209human GRCh38 chr2: 218,656,603-218,658,902 , GRCh37.p13 chr2: 219,521,326-219,523,625 ZNF142, BCS1L
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5452690copy number variation1nstd206human GRCh38 chr2: 218,656,646-218,658,656 , GRCh37.p13 chr2: 219,521,369-219,523,379 ZNF142, BCS1L
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    nsv4916911copy number variation1nstd200human GRCh38 chr2: 218,656,646-218,658,656 , GRCh37.p13 chr2: 219,521,369-219,523,379 BCS1L, ZNF142
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 more genes
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 more genes
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