A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv930179



Internal ID16224135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194451285..194521287hg38UCSC Ensembl
Innerchr2:195316009..195386011hg19UCSC Ensembl
Innerchr2:195024254..195094256hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3870003
hg1970003
hg1870003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584108
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv930179
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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