A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999773



Internal ID19190512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33926795..33928796hg38UCSC Ensembl
Outerchr21:35299099..35301100hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382002
hg192002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152590
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999773
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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