A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999491



Internal ID19194699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8549566..8571367hg38UCSC Ensembl
Outerchr21:9438399..9460200hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3821802
hg1921802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146288
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999491
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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