A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584762



Internal ID16025485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238238228..238240682hg38UCSC Ensembl
Innerchr2:239146869..239149323hg19UCSC Ensembl
Innerchr2:238811608..238814062hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382455
hg192455
hg182455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7349n54
Supporting Variantsnssv933715
Samples
Known GenesHES6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584762
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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