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Items: 1 to 20 of 120

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5684685mobile element insertion1nstd211human GRCh38 chr2: 6,874,290-6,874,290 , GRCh37.p13 chr2: 7,014,421-7,014,421 RSAD2
    nsv5434872copy number variation1nstd206human GRCh38 chr2: 6,867,408-6,867,946 , GRCh37.p13 chr2: 7,007,539-7,008,077 RSAD2
    nsv5409441mobile element insertion1nstd206human GRCh38 chr2: 6,874,290-6,874,341 , GRCh37.p13 chr2: 7,014,421-7,014,472 RSAD2
    nsv5379904translocation1nstd200human GRCh38 chr2: 6,891,655-6,891,655 , GRCh38 chr2: 6,890,529-6,890,529 , GRCh37.p13 chr2: 7,031,786-7,031,786 , GRCh37.p13 chr2: 7,030,660-7,030,660 RSAD2
    nsv5379902translocation1nstd200human GRCh38 chr18: 73,234,810-73,234,810 , GRCh38 chr2: 6,879,956-6,879,956 , GRCh37.p13 chr18: 70,902,045-70,902,045 , GRCh37.p13 chr2: 7,020,087-7,020,087 RSAD2, LINC02864
    nsv5339165translocation1nstd200human GRCh37 chr18: 70,902,045-70,902,045 , GRCh37 chr2: 7,020,087-7,020,087 , GRCh38.p12 chr18: 73,234,810-73,234,810 , GRCh38.p12 chr2: 6,879,956-6,879,956 RSAD2, LINC02864
    nsv5337671translocation1nstd200human GRCh37 chr2: 7,015,585-7,015,585 , GRCh37 chr2: 7,015,275-7,015,275 , GRCh38.p12 chr2: 6,875,454-6,875,454 , GRCh38.p12 chr2: 6,875,144-6,875,144 RSAD2
    nsv5172575mobile element insertion1nstd203human GRCh38 chr2: 6,864,328-6,864,342 , GRCh37.p13 chr2: 7,004,459-7,004,473 RSAD2, CMPK2
    nsv4892207copy number variation1nstd200human GRCh38 chr2: 6,874,940-6,881,263 , GRCh37.p13 chr2: 7,015,071-7,021,394 RSAD2
    nsv4674461copy number variation1nstd102humanUncertain significance GRCh37 chr2: 6,750,679-7,030,957 , GRCh38.p12 chr2: 6,610,547-6,890,826 MIR7515, MIR7515HG, 6 more genes
    nsv4665596copy number variation1nstd186human GRCh37 chr2: 7,007,535-7,008,077 , GRCh38.p12 chr2: 6,867,404-6,867,946 RSAD2
    nsv4586504copy number variation1nstd183human GRCh37 chr2: 7,007,535-7,008,077 , GRCh38.p12 chr2: 6,867,404-6,867,946 RSAD2
    nsv4467040mobile element insertion1nstd166human GRCh37.p13 chr2: 7,036,437-7,036,437 , GRCh38.p12 chr2: 6,896,306-6,896,306 RSAD2
    nsv4454966copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,770-7,502,796 , GRCh38.p12 chr2: 12,770-7,362,665 LINC01810, ADI1, 83 more genes
    nsv4070801copy number variation1nstd166human GRCh37.p13 chr2: 6,942,296-7,124,707 , GRCh38.p12 chr2: 6,802,165-6,984,576 RNF144A, GRASLND, 3 more genes
    nsv4064410copy number variation1nstd166human GRCh37.p13 chr2: 7,038,733-7,043,036 , GRCh38.p12 chr2: 6,898,602-6,902,905 RSAD2
    nsv3909560copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 4,442,179-7,690,419 , GRCh37 chr2: 4,464,304-7,772,968 , GRCh38 chr2: 4,416,714-7,632,837 SOX11, RNF144A, 36 more genes
    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
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