A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600350



Internal ID16041073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176808074..176883163hg38UCSC Ensembl
Innerchr5:176235075..176310164hg19UCSC Ensembl
Innerchr5:176167681..176242770hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3875090
hg1975090
hg1875090
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10181n54
Supporting Variantsnssv1154723
SamplesNINDS_56
Known GenesHK3, UNC5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600350
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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