A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571691



Internal ID16012414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23922978..23928515hg38UCSC Ensembl
Innerchr16:23934299..23939836hg19UCSC Ensembl
Innerchr16:23841800..23847337hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg385538
hg195538
hg185538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4958n54
Supporting Variantsnssv854169, nssv854171, nssv854170
Samples
Known GenesPRKCB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571691
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer