A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583294



Internal ID16370703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:150165530..150181379hg38UCSC Ensembl
Innerchr2:151022044..151037893hg19UCSC Ensembl
Innerchr2:150730290..150746139hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3815850
hg1915850
hg1815850
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv921246
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583294
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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