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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096383copy number variation1nstd102humanUncertain significance GRCh37 chr2: 170,344,296-170,382,206 , GRCh38.p12 chr2: 169,487,786-169,525,696 KLHL41, BBS5
    nsv7039078inversion1nstd229human GRCh38 chr2: 169,426,957-169,535,163 , GRCh37.p13 chr2: 170,283,467-170,391,673 KLHL41, FASTKD1, 1 more genes
    nsv6689923copy number variation1nstd229human GRCh38 chr2: 169,509,482-169,571,010 , GRCh37.p13 chr2: 170,365,992-170,427,520 FASTKD1, KLHL41
    nsv6688423copy number variation1nstd229human GRCh38 chr2: 169,507,729-169,516,486 , GRCh37.p13 chr2: 170,364,239-170,372,996 KLHL41
    nsv6687338copy number variation1nstd229human GRCh38 chr2: 169,449,001-169,630,700 , GRCh37.p13 chr2: 170,305,511-170,487,210 KLHL41, BBS5, 2 more genes
    nsv6685937copy number variation1nstd229human GRCh38 chr2: 169,420,757-170,042,345 , GRCh37.p13 chr2: 170,277,267-170,898,855 PHOSPHO2-KLHL23, LOC100421474, 14 more genes
    nsv6679155copy number variation1nstd229human GRCh38 chr2: 169,516,547-169,551,936 , GRCh37.p13 chr2: 170,373,057-170,408,446 KLHL41, FASTKD1
    nsv6678900copy number variation1nstd229human GRCh38 chr2: 168,515,191-170,305,528 , GRCh37.p13 chr2: 169,371,701-171,162,038 METTL5, FASTKD1, 28 more genes
    nsv6627594copy number variation1nstd224human GRCh37 chr2: 170,366,296-170,419,764 , GRCh38.p12 chr2: 169,509,786-169,563,254 FASTKD1, KLHL41
    nsv6538546inversion1nstd223human GRCh38 chr2: 169,465,382-169,657,943 , GRCh37.p13 chr2: 170,321,892-170,514,453 PPIG, KLHL41, 4 more genes
    nsv6355457copy number variation1nstd223human GRCh38 chr2: 169,503,801-169,509,300 , GRCh37.p13 chr2: 170,360,311-170,365,810 KLHL41, BBS5
    nsv6351038copy number variation1nstd223human GRCh38 chr2: 169,420,756-170,042,343 , GRCh37.p13 chr2: 170,277,266-170,898,853 LOC100421474, PHOSPHO2-KLHL23, 14 more genes
    nsv6347452copy number variation1nstd223human GRCh38 chr2: 169,509,482-169,571,010 , GRCh37.p13 chr2: 170,365,992-170,427,520 FASTKD1, KLHL41
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315160copy number variation1nstd102humanPathogenic GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123 EIF3EP3, FAP, 158 more genes
    nsv6311353copy number variation1nstd102humanUncertain significance GRCh37 chr2: 170,366,289-170,382,206 , GRCh38.p12 chr2: 169,509,779-169,525,696 KLHL41
    nsv6311352copy number variation1nstd102humanPathogenic GRCh37 chr2: 170,218,811-170,382,206 , GRCh38.p12 chr2: 169,362,301-169,525,696 BBS5, LRP2, 1 more genes
    nsv6134632copy number variation1nstd213human GRCh37 chr2: 170,380,000-170,810,001 , GRCh38.p12 chr2: 169,523,490-169,953,491 SSB, PPIG, 13 more genes
    nsv6134500copy number variation1nstd213human GRCh37 chr2: 149,790,000-179,310,001 , GRCh38.p12 chr2: 148,934,069-178,445,274 , ACVR1, 394 more genes
    nsv5692574mobile element insertion2nstd211human GRCh38 chr2: 169,524,003-169,524,003 , GRCh37.p13 chr2: 170,380,513-170,380,513 KLHL41
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