A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585047



Internal ID16372456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241931649..242080869hg38UCSC Ensembl
Innerchr2:242873800..243023020hg19UCSC Ensembl
Innerchr2:242522473..242671693hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38149221
hg19149221
hg18149221
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7399n54
Supporting Variantsnssv934905
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585047
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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