A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948320



Internal ID16242276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44300477..44330463hg38UCSC Ensembl
Innerchr21:45720360..45750346hg19UCSC Ensembl
Innerchr21:44544788..44574774hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3829987
hg1929987
hg1829987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587779
Supporting Variants
Samples
Known GenesC21orf2, PFKL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948320
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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