A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571693



Internal ID16012416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23922978..23929417hg38UCSC Ensembl
Innerchr16:23934299..23940738hg19UCSC Ensembl
Innerchr16:23841800..23848239hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg386440
hg196440
hg186440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4959n54
Supporting Variantsnssv854173, nssv854174
Samples
Known GenesPRKCB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571693
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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