A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600348



Internal ID16041071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176741506..176866702hg38UCSC Ensembl
Innerchr5:176168507..176293703hg19UCSC Ensembl
Innerchr5:176101113..176226309hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38125197
hg19125197
hg18125197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10180n54
Supporting Variantsnssv1154722
SamplesNINDS_70
Known GenesLOC102577424, UNC5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600348
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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