A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584697



Internal ID16025420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232819387..232868642hg38UCSC Ensembl
Innerchr2:233684097..233733352hg19UCSC Ensembl
Innerchr2:233392341..233441596hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3849256
hg1949256
hg1849256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv933634
Samples
Known GenesGIGYF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584697
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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