A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3997591



Internal ID19186898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:83638555..83645156hg38UCSC Ensembl
Outerchr14:84104899..84111500hg19UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg386602
hg196602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148805
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3997591
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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