A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998312



Internal ID19186646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181307298..181310099hg38UCSC Ensembl
Outerchr5:180734299..180737100hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382802
hg192802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1146949
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998312
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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