A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600336



Internal ID16041059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:175666372..175747008hg38UCSC Ensembl
Innerchr5:175093375..175174011hg19UCSC Ensembl
Innerchr5:175025981..175106617hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3880637
hg1980637
hg1880637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045683
Samples
Known GenesHRH2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600336
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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