A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976882



Internal ID19236402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:8595453..8599453hg38UCSC Ensembl
Outerchr20:8576100..8580100hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg384001
hg194001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124828
Supporting Variants
SamplesKWS2
Known GenesPLCB1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976882
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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