A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961457



Internal ID19205351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:31250334..31252634hg38UCSC Ensembl
Outerchr2:31473200..31475500hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128789
Supporting Variants
SamplesKWS1
Known GenesEHD3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961457
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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