A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585048



Internal ID16372457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241931649..242082731hg38UCSC Ensembl
Innerchr2:242873800..243024882hg19UCSC Ensembl
Innerchr2:242522473..242673555hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38151083
hg19151083
hg18151083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7399n54
Supporting Variantsnssv934906
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585048
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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