A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587656



Internal ID16028379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42714333..42738295hg38UCSC Ensembl
Innerchr21:44134443..44158405hg19UCSC Ensembl
Innerchr21:43007512..43031474hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3823963
hg1923963
hg1823963
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152413
SamplesNINDS_127
Known GenesPDE9A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587656
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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