A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600352



Internal ID16041075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176836148..176861163hg38UCSC Ensembl
Innerchr5:176263149..176288164hg19UCSC Ensembl
Innerchr5:176195755..176220770hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3825016
hg1925016
hg1825016
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045693
Samples
Known GenesUNC5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600352
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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