A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003327



Internal ID19189586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10742357..10814558hg38UCSC Ensembl
Outerchr21:10697899..10770100hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3872202
hg1972202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154052
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003327
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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