A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585007



Internal ID16372416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241915920..242063126hg38UCSC Ensembl
Innerchr2:242858071..243005277hg19UCSC Ensembl
Innerchr2:242506744..242653950hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38147207
hg19147207
hg18147207
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7399n54
Supporting Variantsnssv934839, nssv934838, nssv934840, nssv934837
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585007
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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