A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571689



Internal ID16012412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23922978..23927773hg38UCSC Ensembl
Innerchr16:23934299..23939094hg19UCSC Ensembl
Innerchr16:23841800..23846595hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg384796
hg194796
hg184796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4958n54
Supporting Variantsnssv854167, nssv854166
Samples
Known GenesPRKCB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571689
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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