A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960008



Internal ID19205622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175690872..175694372hg38UCSC Ensembl
Outerchr2:176555600..176559100hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383501
hg193501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110358
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960008
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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