A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516339



Internal ID15096946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43453180hg38UCSC Ensembl
Innerchr21:44823479..44873060hg19UCSC Ensembl
Innerchr21:43647907..43697488hg18UCSC Ensembl
Innerchr21:43647907..43697488hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3849582
hg1949582
hg1849582
hg1749582
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703319, nssv671611, nssv671495, nssv701259, nssv667686, nssv700339, nssv673127, nssv661042, nssv699356, nssv681443, nssv689513, nssv660515
Samples
Known GenesLINC00319, SIK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516339
Frequency
Sample Size2026
Observed Gain6
Observed Loss6
Observed Complex0
Frequencyn/a


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