A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673127



Internal ID15063093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43419802..43453180hg38UCSC Ensembl
Innerchr21:44839682..44873060hg19UCSC Ensembl
Innerchr21:43664110..43697488hg18UCSC Ensembl
Innerchr21:43664110..43697488hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3833379
hg1933379
hg1833379
hg1733379
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516339
Supporting Variants
Samples
Known GenesLINC00319, SIK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673127
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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