A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999994



Internal ID19193427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45634985..45638186hg38UCSC Ensembl
Outerchr21:47054899..47058100hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383202
hg193202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147223
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999994
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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