A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999158



Internal ID19190860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51704483..51706384hg38UCSC Ensembl
Outerchr3:51738499..51740400hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg381902
hg191902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151974
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999158
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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