A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600192



Internal ID16387601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:163440189..163450639hg38UCSC Ensembl
Innerchr5:162867195..162877645hg19UCSC Ensembl
Innerchr5:162799773..162810223hg18UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3810451
hg1910451
hg1810451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1044997
Samples
Known GenesCCNG1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600192
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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