A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978212



Internal ID19227225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160634968..160646768hg38UCSC Ensembl
Outerchr6:161056000..161067800hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3811801
hg1911801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139876
Supporting Variants
SamplesKWS2
Known GenesLPA
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978212
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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