A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600353



Internal ID16041076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176836148..176883197hg38UCSC Ensembl
Innerchr5:176263149..176310198hg19UCSC Ensembl
Innerchr5:176195755..176242804hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3847050
hg1947050
hg1847050
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154725
SamplesHGDP01215
Known GenesHK3, UNC5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600353
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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