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Items: 1 to 20 of 369

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7073900inversion1nstd229human GRCh38 chr21: 46,585,541-46,609,744 , GRCh37.p13 chr21: 48,005,454-48,029,656 S100B
    nsv7071040inversion1nstd229human GRCh38 chr21: 46,456,109-46,605,555 , GRCh37.p13 chr21: 47,876,022-48,025,468 RNU6-396P, S100B, 2 more genes
    nsv7068672inversion1nstd229human GRCh38 chr21: 46,415,821-46,616,901 , GRCh37.p13 chr21: 47,835,735-48,036,813 PCNT, RPL18AP2, 4 more genes
    nsv7035932copy number variation1nstd229human GRCh38 chr21: 46,578,274-46,597,213 , GRCh37.p13 chr21: 47,998,187-48,017,126 S100B
    nsv7034189copy number variation1nstd229human GRCh38 chr21: 46,504,624-46,599,411 , GRCh37.p13 chr21: 47,924,537-48,019,324 DIP2A, S100B, 1 more genes
    nsv7033677copy number variation1nstd229human GRCh38 chr21: 46,590,693-46,641,450 , GRCh37.p13 chr21: 48,010,606-48,061,362 S100B, PRMT2
    nsv7033384copy number variation1nstd229human GRCh38 chr21: 46,599,776-46,617,424 , GRCh37.p13 chr21: 48,019,689-48,037,336 S100B
    nsv7033050copy number variation1nstd229human GRCh38 chr21: 46,598,064-46,601,973 , GRCh37.p13 chr21: 48,017,977-48,021,886 S100B
    nsv7026061copy number variation1nstd229human GRCh38 chr21: 46,594,916-46,618,513 , GRCh37.p13 chr21: 48,014,829-48,038,425 S100B
    nsv7024793copy number variation1nstd229human GRCh38 chr21: 46,589,871-46,644,800 , GRCh37.p13 chr21: 48,009,784-48,064,712 PRMT2, S100B
    nsv7023422copy number variation1nstd229human GRCh38 chr21: 46,592,504-46,598,181 , GRCh37.p13 chr21: 48,012,417-48,018,094 S100B
    nsv7020586copy number variation1nstd229human GRCh38 chr21: 46,581,199-46,625,858 , GRCh37.p13 chr21: 48,001,112-48,045,770 S100B
    nsv6637626copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,500,415-48,097,372 , GRCh38.p12 chr21: 46,080,501-46,677,460 FTCD-AS1, PCNT, 16 more genes
    nsv6637307copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,563,980-48,097,372 , GRCh38.p12 chr21: 46,144,066-46,677,460 PCNT, DIP2A, 15 more genes
    nsv6627167copy number variation1nstd224human GRCh37 chr21: 48,019,868-48,084,247 , GRCh38.p12 chr21: 46,599,955-46,664,335 S100B, DSTNP1, 1 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6553741copy number variation1nstd223human GRCh38 chr21: 46,596,796-46,597,275 , GRCh37.p13 chr21: 48,016,709-48,017,188 S100B
    nsv6553000copy number variation1nstd223human GRCh38 chr21: 46,597,694-46,610,193 , GRCh37.p13 chr21: 48,017,607-48,030,105 S100B
    nsv6545348copy number variation1nstd223human GRCh38 chr21: 46,599,381-46,669,628 , GRCh37.p13 chr21: 48,019,294-48,089,540 DSTNP1, PRMT2, 1 more genes
    nsv6541216copy number variation1nstd223human GRCh38 chr21: 46,597,337-46,597,999 , GRCh37.p13 chr21: 48,017,250-48,017,912 S100B
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