A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597371



Internal ID16038094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:18492730..18547671hg38UCSC Ensembl
Innerchr5:18492839..18547780hg19UCSC Ensembl
Innerchr5:18528596..18583537hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3854942
hg1954942
hg1854942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152860
Samples1788485381_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597371
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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