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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7044308inversion1nstd229human GRCh38 chr1: 226,889,749-226,898,395 , GRCh37.p13 chr1: 227,077,450-227,086,096 PSEN2
    nsv6677084copy number variation1nstd229human GRCh38 chr1: 226,886,338-226,889,199 , GRCh37.p13 chr1: 227,074,039-227,076,900 PSEN2
    nsv6670039copy number variation1nstd229human GRCh38 chr1: 226,874,322-226,874,412 , GRCh37.p13 chr1: 227,062,023-227,062,113 PSEN2
    nsv6668544copy number variation1nstd229human GRCh38 chr1: 226,899,809-226,902,408 , GRCh37.p13 chr1: 227,087,510-227,090,109 PSEN2
    nsv6662135copy number variation1nstd229human GRCh38 chr1: 226,765,695-226,887,872 , GRCh37.p13 chr1: 226,953,396-227,075,573 LOC105373119, PSEN2, 1 more genes
    nsv6660485copy number variation1nstd229human GRCh38 chr1: 226,897,834-226,900,628 , GRCh37.p13 chr1: 227,085,535-227,088,329 PSEN2
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6329157copy number variation1nstd223human GRCh38 chr1: 226,882,236-226,883,481 , GRCh37.p13 chr1: 227,069,937-227,071,182 PSEN2
    nsv6327590copy number variation1nstd223human GRCh38 chr1: 226,857,744-227,082,709 , GRCh37.p13 chr1: 227,045,445-227,270,410 COQ8A, CDC42BPA, 3 more genes
    nsv6324615copy number variation1nstd223human GRCh38 chr1: 221,964,560-227,275,239 , GRCh37.p13 chr1: 222,137,902-227,462,940 LEFTY2, HHIPL2, 109 more genes
    nsv6313779copy number variation1nstd102humanPathogenic GRCh37 chr1: 221,303,919-227,461,343 , GRCh38.p12 chr1: 221,130,577-227,273,642 ENAH, HHIPL2, 119 more genes
    nsv6313700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 226,131,690-231,908,227 , GRCh38.p12 chr1: 225,943,990-231,772,481 ACTA1, PARP1, 167 more genes
    nsv6310858copy number variation1nstd102humanUncertain significance GRCh37 chr1: 225,591,005-227,174,438 , GRCh38.p12 chr1: 225,403,303-226,986,737 ACBD3, H3-3A, 39 more genes
    nsv6133981copy number variation1nstd213human GRCh37 chr1: 223,800,000-235,190,001 , GRCh38.p12 chr1: 223,612,298-235,054,254 AGT, H3-3A, 273 more genes
    nsv6133862copy number variation1nstd213human GRCh37 chr1: 226,360,000-227,650,001 , GRCh38.p12 chr1: 226,172,299-227,462,300 CDKN2AIPNLP1, LOC100418874, 27 more genes
    nsv6133760copy number variation1nstd213human GRCh37 chr1: 223,800,000-227,830,001 , GRCh38.p12 chr1: 223,612,298-227,642,300 PARP1, LBR, 92 more genes
    nsv6133646copy number variation1nstd213human GRCh37 chr1: 226,280,000-228,400,001 , GRCh38.p12 chr1: 226,092,299-228,212,300 MRPL55, LIN9, 62 more genes
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