A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587624



Internal ID16375033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42031137..42103831hg38UCSC Ensembl
Innerchr21:43451246..43523941hg19UCSC Ensembl
Innerchr21:42324315..42397010hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3872695
hg1972696
hg1872696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv947348
Samples
Known GenesC21orf128, UMODL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587624
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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