A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976691



Internal ID19237731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:22647854..22652754hg38UCSC Ensembl
Outerchr11:22669400..22674300hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124636
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976691
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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