A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3998805



Internal ID19190608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112526052..112527453hg38UCSC Ensembl
Outerchr3:112244899..112246300hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150020
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3998805
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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