A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587631



Internal ID16375040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42441930..42455624hg38UCSC Ensembl
Innerchr21:43862040..43875734hg19UCSC Ensembl
Innerchr21:42735109..42748803hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3813695
hg1913695
hg1813695
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152412
SamplesNINDS_254
Known GenesUBASH3A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587631
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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