A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997421



Internal ID19186581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:80490282..80496383hg38UCSC Ensembl
Outerchr6:81199999..81206100hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg386102
hg196102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146060
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997421
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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