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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099204copy number variation1nstd231human GRCh38.p12 chr1: 51,433,462-53,162,521 , GRCh37 chr1: 51,899,134-53,628,193 EPS15, GPX7, 53 more genes
    nsv7095622copy number variation1nstd102humanUncertain significance GRCh37 chr1: 53,393,069-53,420,496 , GRCh38.p12 chr1: 52,927,397-52,954,824 SCP2, ECHDC2, 1 more genes
    nsv7052979inversion1nstd229human GRCh38 chr1: 52,902,490-52,926,550 , GRCh37.p13 chr1: 53,368,162-53,392,222 LOC112268226, SCP2, 2 more genes
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv7047407inversion1nstd229human GRCh38 chr1: 52,902,579-52,926,515 , GRCh37.p13 chr1: 53,368,251-53,392,187 ECHDC2, SCP2, 2 more genes
    nsv6651661copy number variation1nstd229human GRCh38 chr1: 52,901,251-52,906,363 , GRCh37.p13 chr1: 53,366,923-53,372,035 ECHDC2
    nsv6651660copy number variation1nstd229human GRCh38 chr1: 52,899,226-52,904,644 , GRCh37.p13 chr1: 53,364,898-53,370,316 ECHDC2
    nsv6651656copy number variation1nstd229human GRCh38 chr1: 52,777,527-53,016,476 , GRCh37.p13 chr1: 53,243,199-53,482,148 RNU6-969P, H3P2, 8 more genes
    nsv6651570copy number variation1nstd229human GRCh38 chr1: 52,910,050-52,914,660 , GRCh37.p13 chr1: 53,375,722-53,380,332 ECHDC2
    nsv6651439copy number variation1nstd229human GRCh38 chr1: 52,896,599-52,904,644 , GRCh37.p13 chr1: 53,362,271-53,370,316 ECHDC2
    nsv6650903copy number variation1nstd229human GRCh38 chr1: 52,866,047-52,909,288 , GRCh37.p13 chr1: 53,331,719-53,374,960 ZYG11A, ECHDC2
    nsv6626260copy number variation1nstd224human GRCh37 chr1: 53,340,824-53,374,666 , GRCh38.p12 chr1: 52,875,152-52,908,994 ECHDC2, ZYG11A
    nsv6555096inversion1nstd223human GRCh38 chr1: 52,924,245-52,924,437 , GRCh37.p13 chr1: 53,389,917-53,390,109 LOC100652967, ECHDC2
    nsv6548681inversion1nstd223human GRCh38 chr1: 52,907,088-52,908,232 , GRCh37.p13 chr1: 53,372,760-53,373,904 ECHDC2
    nsv6537710inversion1nstd223human GRCh38 chr1: 52,924,108-52,924,617 , GRCh37.p13 chr1: 53,389,780-53,390,289 ECHDC2, LOC100652967
    nsv6329425copy number variation1nstd223human GRCh38 chr1: 52,910,050-52,914,657 , GRCh37.p13 chr1: 53,375,722-53,380,329 ECHDC2
    nsv6316204copy number variation1nstd223human GRCh38 chr1: 52,892,101-52,894,000 , GRCh37.p13 chr1: 53,357,773-53,359,672 ZYG11A, ECHDC2
    nsv6310881copy number variation1nstd102humanUncertain significance GRCh37 chr1: 53,153,392-53,493,763 , GRCh38.p12 chr1: 52,687,720-53,028,091 LOC100652967, ECHDC2, 13 more genes
    nsv6133775copy number variation1nstd213human GRCh37 chr1: 50,680,000-53,460,001 , GRCh38.p12 chr1: 50,214,328-52,994,329 CDKN2C, EPS15, 76 more genes
    nsv5971838inversion1nstd209human GRCh38 chr1: 52,869,986-52,997,049 , GRCh37.p13 chr1: 53,335,658-53,462,721 SCP2, ECHDC2, 6 more genes
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