A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587633



Internal ID16028356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:42485217..42631745hg38UCSC Ensembl
Innerchr21:43905327..44051855hg19UCSC Ensembl
Innerchr21:42778396..42924924hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38146529
hg19146529
hg18146529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv947356
Samples
Known GenesRSPH1, SLC37A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587633
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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