A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600335



Internal ID16041058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175653226..175714243hg38UCSC Ensembl
Innerchr5:175080229..175141246hg19UCSC Ensembl
Innerchr5:175012835..175073852hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3861018
hg1961018
hg1861018
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045682
Samples
Known GenesHRH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600335
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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