A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976453



Internal ID19239586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1122692..1126092hg38UCSC Ensembl
Outerchr11:1116600..1120000hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115401
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976453
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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