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Items: 1 to 20 of 91

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099187copy number variation1nstd231human GRCh38.p12 chr1: 24,354,009-27,158,528 , GRCh37 chr1: 24,680,499-27,485,019 RUNX3, CD52, 88 more genes
    nsv7096043copy number variation1nstd102humanPathogenic GRCh37 chr1: 26,784,272-26,795,632 , GRCh38.p12 chr1: 26,457,781-26,469,141 DHDDS-AS1, DHDDS
    nsv7095609copy number variation1nstd102humanUncertain significance GRCh37 chr1: 25,870,190-27,278,871 , GRCh38.p12 chr1: 25,543,699-26,952,380 RPL34P4, GPATCH3, 53 more genes
    nsv7048036inversion1nstd229human GRCh38 chr1: 25,582,347-26,624,382 , GRCh37.p13 chr1: 25,908,838-26,950,873 MAN1C1, DHDDS-AS1, 41 more genes
    nsv7046480inversion1nstd229human GRCh38 chr1: 25,582,465-26,624,179 , GRCh37.p13 chr1: 25,908,956-26,950,670 SNRPFP2, ZPLD2P, 41 more genes
    nsv6648045copy number variation1nstd229human GRCh38 chr1: 26,400,001-27,138,900 , GRCh37.p13 chr1: 26,726,492-27,465,391 RN7SL679P, NR0B2, 26 more genes
    nsv6647799copy number variation1nstd229human GRCh38 chr1: 25,804,801-26,645,100 , GRCh37.p13 chr1: 26,131,292-26,971,591 RPL17P9, MIR3917, 39 more genes
    nsv6647354copy number variation1nstd229human GRCh38 chr1: 26,095,901-27,680,900 , GRCh37.p13 chr1: 26,422,392-28,007,411 ZPLD2P, CEP85, 65 more genes
    nsv6647254copy number variation1nstd229human GRCh38 chr1: 21,562,611-27,513,090 , GRCh37.p13 chr1: 21,889,104-27,839,601 RPL18AP5, LINC00339, 184 more genes
    nsv6647227copy number variation1nstd229human GRCh38 chr1: 20,848,934-27,947,465 , GRCh37.p13 chr1: 21,175,427-28,273,976 RPL17P9, ALPL, 218 more genes
    nsv6333556copy number variation1nstd223human GRCh38 chr1: 24,890,501-27,921,300 , GRCh37.p13 chr1: 25,216,992-28,247,811 RUNX3, MACO1, 108 more genes
    nsv6290421copy number variation1nstd102humanUncertain significance GRCh37 chr1: 26,246,213-27,044,118 , GRCh38.p12 chr1: 25,919,722-26,717,627 C1orf232, CEP85, 32 more genes
    nsv6133948copy number variation1nstd213human GRCh37 chr1: 17,280,000-26,950,001 , GRCh38.p12 chr1: 16,953,505-26,623,510 ALPL, C1QA, 250 more genes
    nsv6133748copy number variation1nstd213human GRCh37 chr1: 17,270,000-26,960,001 , GRCh38.p12 chr1: 16,943,505-26,633,510 ALPL, C1QA, 250 more genes
    nsv6133648copy number variation1nstd213human GRCh37 chr1: 23,300,000-28,930,001 , GRCh38.p12 chr1: 22,973,507-28,603,489 RUNX3, CD52, 195 more genes
    nsv6133572copy number variation1nstd213human GRCh37 chr1: 17,270,000-26,950,001 , GRCh38.p12 chr1: 16,943,505-26,623,510 ALPL, C1QA, 250 more genes
    nsv5673254copy number variation1nstd102humanPathogenic GRCh37 chr1: 25,870,180-26,795,632 , GRCh38.p12 chr1: 25,543,689-26,469,141 LDLRAP1, AUNIP, 36 more genes
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
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