A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996314



Internal ID18844178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95036554..95039655hg38UCSC Ensembl
Outerchr2:95702299..95705400hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg383102
hg193102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150837
Supporting Variants
SamplesKWB1
Known GenesMAL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996314
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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