A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125616



Internal ID18940007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23875507..23875566hg38UCSC Ensembl
Outerchr16:23886828..23886887hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1324n106
Supporting Variantsnssv3983820
SamplesKWS2
Known GenesPRKCB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125616
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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