A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118499



Internal ID19270901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94038734..94042534hg38UCSC Ensembl
Outerchr11:93771900..93775700hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv697n106
Supporting Variantsnssv3959008
SamplesKWS1
Known GenesHEPHL1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118499
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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