A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584676



Internal ID16372085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:230871895..230878006hg38UCSC Ensembl
Innerchr2:231736610..231742721hg19UCSC Ensembl
Innerchr2:231444854..231450965hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386112
hg196112
hg186112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7335n54
Supporting Variantsnssv933615
Samples
Known GenesITM2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584676
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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