A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995786



Internal ID19189938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:79818264..79821865hg38UCSC Ensembl
Outerchr13:80392399..80396000hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg383602
hg193602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146634
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3995786
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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