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Items: 1 to 20 of 135

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099297copy number variation1nstd231human GRCh38.p12 chr1: 58,444,770-67,143,664 , GRCh37 chr1: 58,910,442-67,609,347 AK4, CYP2J2, 125 more genes
    nsv7099208copy number variation1nstd231human GRCh38.p12 chr1: 59,526,542-66,009,490 , GRCh37 chr1: 59,992,214-66,475,173 AK4, CYP2J2, 96 more genes
    nsv7095627copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,548,464-67,861,772 , GRCh38.p12 chr1: 61,082,792-67,396,089 ALG6, MIR3116-2, 94 more genes
    nsv7095538copy number variation1nstd102humanPathogenic GRCh37 chr1: 65,299,551-67,861,772 , GRCh38.p12 chr1: 64,833,868-67,396,089 MRPS21P1, MIER1, 36 more genes
    nsv7056247inversion1nstd229human GRCh38 chr1: 64,963,235-65,129,491 , GRCh37.p13 chr1: 65,428,918-65,595,174 SLC2A3P2, MIR101-1, 6 more genes
    nsv7046803inversion1nstd229human GRCh38 chr1: 64,834,389-65,784,694 , GRCh37.p13 chr1: 65,300,072-66,250,377 AK4, LINC01359, 18 more genes
    nsv6653096copy number variation1nstd229human GRCh38 chr1: 64,974,464-65,021,904 , GRCh37.p13 chr1: 65,440,147-65,487,587 SLC2A3P2, JAK1, 2 more genes
    nsv6653092copy number variation1nstd229human GRCh38 chr1: 64,907,672-65,055,377 , GRCh37.p13 chr1: 65,373,355-65,521,060 LOC100130270, JAK1, 3 more genes
    nsv6542115inversion1nstd223human GRCh38 chr1: 61,925,268-71,371,290 , GRCh37.p13 chr1: 62,390,940-71,836,973 PATJ, GNG12-AS1, 142 more genes
    nsv6322637copy number variation1nstd223human GRCh38 chr1: 64,983,991-64,984,698 , GRCh37.p13 chr1: 65,449,674-65,450,381 LINC01359, SLC2A3P2, 1 more genes
    nsv6313537copy number variation1nstd102humanUncertain significance GRCh37 chr1: 65,125,111-69,186,543 , GRCh38.p12 chr1: 64,659,428-68,720,860 RPE65, DNAJB6P4, 64 more genes
    nsv5885620copy number variation1nstd209human GRCh38 chr1: 64,983,991-64,984,697 , GRCh37.p13 chr1: 65,449,674-65,450,380 SLC2A3P2, LINC01359, 1 more genes
    nsv5876738copy number variation1nstd209human GRCh38 chr1: 64,984,293-64,985,346 , GRCh37.p13 chr1: 65,449,976-65,451,029 JAK1, SLC2A3P2, 1 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 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
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4581290copy number variation1nstd183human GRCh37 chr1: 65,443,324-65,871,481 , GRCh38.p12 chr1: 64,977,641-65,405,798 MRPS21P1, MIR101-1, 12 more genes
    nsv4453663copy number variation1nstd102humanPathogenic GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970 RNU6-387P, MIR3671, 170 more genes
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