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Items: 1 to 20 of 464

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148161copy number variation1nstd102humanPathogenic GRCh38 chr4: 1-49,062,177 , GRCh37.p13 chr4: 507,005-49,064,194 SLIRPP2, STIM2-AS1, 659 more genes
    nsv7148157copy number variation1nstd102humanPathogenic GRCh38 chr4: 85,624-57,073,230 , GRCh37.p13 chr4: 507,005-57,939,396 OR7E84P, FAM193A, 764 more genes
    nsv7146765insertion1nstd232human GRCh37.p13 chr4: 1,821,199-1,821,199 , GRCh38.p12 chr4: 1,819,472-1,819,472 LETM1
    nsv7137196copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,345-34,512,694 , GRCh38.p12 chr4: 68,453-34,511,072 ECM1P2, LOC105378240, 482 more genes
    nsv7097251copy number variation1nstd102humanUncertain significance GRCh37 chr4: 493,125-1,843,544 , GRCh38.p12 chr4: 499,336-1,841,817 PDE6B, LOC105374339, 44 more genes
    nsv7044852inversion1nstd229human GRCh38 chr4: 1,856,253-1,859,694 , GRCh37.p13 chr4: 1,857,980-1,861,421 LETM1
    nsv7039441inversion1nstd229human GRCh38 chr4: 1,689,472-2,959,448 , GRCh37.p13 chr4: 1,691,199-2,961,175 NOP14-AS1, LOC112268460, 34 more genes
    nsv6736417copy number variation1nstd229human GRCh38 chr4: 1,801,401-1,870,600 , GRCh37.p13 chr4: 1,803,128-1,872,327 RN7SL671P, LETM1, 2 more genes
    nsv6732003copy number variation1nstd229human GRCh38 chr4: 1,849,201-1,853,800 , GRCh37.p13 chr4: 1,850,928-1,855,527 LETM1
    nsv6731731copy number variation1nstd229human GRCh38 chr4: 1,711,801-1,828,000 , GRCh37.p13 chr4: 1,713,528-1,829,727 LOC112268460, FGFR3, 4 more genes
    nsv6730554copy number variation1nstd229human GRCh38 chr4: 1,286,014-1,845,501 , GRCh37.p13 chr4: 1,279,802-1,847,228 TMEM129, FGFR3, 12 more genes
    nsv6726357copy number variation1nstd229human GRCh38 chr4: 1,844,652-1,845,086 , GRCh37.p13 chr4: 1,846,379-1,846,813 LETM1
    nsv6721192copy number variation1nstd229human GRCh38 chr4: 1,800,047-1,811,594 , GRCh37.p13 chr4: 1,801,774-1,813,321 LETM1, FGFR3
    nsv6720770copy number variation1nstd229human GRCh38 chr4: 1,808,240-1,861,252 , GRCh37.p13 chr4: 1,809,967-1,862,979 LETM1, FGFR3
    nsv6720653copy number variation1nstd229human GRCh38 chr4: 1,823,316-1,823,350 , GRCh37.p13 chr4: 1,825,043-1,825,077 LETM1
    nsv6719176copy number variation1nstd229human GRCh38 chr4: 1,814,357-1,827,116 , GRCh37.p13 chr4: 1,816,084-1,828,843 LETM1
    nsv6636691copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,346-2,437,290 , GRCh38.p12 chr4: 68,454-2,435,563 SPON2, TACC3, 77 more genes
    nsv6636582copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,346-12,369,983 , GRCh38.p12 chr4: 68,454-12,368,359 NELFA, OR7E111FP, 289 more genes
    nsv6636548copy number variation1nstd102humanUncertain significance GRCh37 chr4: 1,734,046-1,871,531 , GRCh38.p12 chr4: 1,732,319-1,869,804 NSD2, TACC3, 4 more genes
    nsv6636534copy number variation1nstd102humanLikely pathogenic GRCh37 chr4: 963,688-2,913,553 , GRCh38.p12 chr4: 969,900-2,911,826 ADD1, CTBP1, 53 more genes
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