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Items: 1 to 20 of 167

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5875437copy number variation1nstd209human GRCh38 chr2: 12,994,550-13,001,245 , GRCh37.p13 chr2: 13,134,675-13,141,370 LOC105373436, LOC100506474
    nsv5869824copy number variation1nstd209human GRCh38 chr2: 13,002,471-13,002,525 , GRCh37.p13 chr2: 13,142,596-13,142,650 LOC105373436, LOC100506474
    nsv5831235copy number variation1nstd209human GRCh38 chr2: 12,994,060-13,001,451 , GRCh37.p13 chr2: 13,134,185-13,141,576 LOC100506474, LOC105373436
    nsv5566874copy number variation1nstd207human GRCh38 chr2: 13,002,471-13,002,526 , GRCh37.p13 chr2: 13,142,596-13,142,651 LOC100506474, LOC105373436
    nsv5448020copy number variation1nstd206human GRCh38 chr2: 13,002,471-13,002,531 , GRCh37.p13 chr2: 13,142,596-13,142,656 LOC100506474, LOC105373436
    nsv4904780copy number variation1nstd200human GRCh38 chr2: 12,859,146-13,026,502 , GRCh37.p13 chr2: 12,999,272-13,166,627 LOC105373436, LOC100506474
    nsv4900283copy number variation1nstd200human GRCh38 chr2: 12,995,396-12,996,736 , GRCh37.p13 chr2: 13,135,521-13,136,861 LOC100506474
    nsv4742614copy number variation1nstd199human GRCh37 chr2: 13,142,596-13,142,652 , GRCh38.p12 chr2: 13,002,471-13,002,527 LOC100506474, LOC105373436
    nsv4674709copy number variation1nstd102humanUncertain significance GRCh37 chr2: 11,698,868-13,261,503 , GRCh38.p12 chr2: 11,558,742-13,121,378 MIR3125, LOC105373431, 23 more genes
    nsv4463075mobile element insertion1nstd166human GRCh37.p13 chr2: 13,115,897-13,115,897 , GRCh38.p12 chr2: 12,975,771-12,975,771 LOC100506474
    nsv4451073copy number variation1nstd102humanPathogenic GRCh37 chr2: 12,269,293-18,259,781 , GRCh38.p12 chr2: 12,129,167-18,078,515 LINC00276, TRIB2, 49 more genes
    nsv4063816copy number variation1nstd166human GRCh37.p13 chr2: 13,135,331-13,136,164 , GRCh38.p12 chr2: 12,995,206-12,996,039 LOC100506474
    nsv4059375copy number variation1nstd166human GRCh37.p13 chr2: 12,999,272-13,166,627 , GRCh38.p12 chr2: 12,859,146-13,026,502 LOC105373436, LOC100506474
    nsv4054398copy number variation1nstd166human GRCh37.p13 chr2: 13,142,596-13,142,656 , GRCh38.p12 chr2: 13,002,471-13,002,531 LOC100506474, LOC105373436
    nsv3908896copy number variation1nstd102humanPathogenic GRCh37 chr2: 6,671,304-16,243,921 , GRCh38 chr2: 6,531,172-16,103,799 , NCBI36 chr2: 6,588,755-16,161,372 RNU6-1288P, MIR7515HG, 138 more genes
    nsv3908628copy number variation1nstd102humanPathogenic NCBI36 chr2: 20,342-14,924,526 , GRCh37 chr2: 30,342-15,007,075 , GRCh38 chr2: 30,342-14,866,951 RPS7, RPL30P3, 198 more genes
    nsv3908605copy number variation1nstd102humanPathogenic GRCh37 chr2: 66,097-55,797,773 , GRCh38 chr2: 66,097-55,570,637 , NCBI36 chr2: 56,097-55,651,277 SLC35F6, LOC105374458, 801 more genes
    nsv3908459copy number variation1nstd102humanPathogenic NCBI36 chr2: 1,647,394-23,740,517 , GRCh38 chr2: 1,664,615-23,664,142 , GRCh37 chr2: 1,668,387-23,887,012 EIF1P7, LOC105373398, 277 more genes
    nsv3908405copy number variation1nstd102humanPathogenic GRCh38 chr2: 17,019-20,001,056 , NCBI36 chr2: 7,019-20,064,298 , GRCh37 chr2: 17,019-20,200,817 LOC100996549, LOC105373479, 252 more genes
    nsv3908288copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,816-46,210,371 , GRCh38 chr2: 236,816-45,983,232 , NCBI36 chr2: 226,816-46,063,875 ALLC, LOC105373429, 674 more genes
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