A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600452



Internal ID16041175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178753298..178814494hg38UCSC Ensembl
Innerchr5:178180299..178241495hg19UCSC Ensembl
Innerchr5:178112905..178174101hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3861197
hg1961197
hg1861197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1046096
Samples
Known GenesAACSP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600452
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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