A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112017



Internal ID18935656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23899565..23899871hg38UCSC Ensembl
Outerchr16:23910886..23911192hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1325n106
Supporting Variantsnssv3965697
SamplesKWS1
Known GenesPRKCB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112017
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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