A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv948048



Internal ID15895318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44079290..44175177hg38UCSC Ensembl
Innerchr21:45499171..45595060hg19UCSC Ensembl
Innerchr21:44323599..44419488hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3895888
hg1995890
hg1895890
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587722
Supporting Variants
Samples
Known GenesC21orf33, PWP2, TRAPPC10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv948048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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