A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959194



Internal ID19210613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45796986..45799086hg38UCSC Ensembl
Outerchr21:47216900..47219000hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382101
hg192101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118680
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959194
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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