A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992703



Internal ID18892032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67668529..67670029hg38UCSC Ensembl
Outerchr11:67436000..67437500hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141197
Supporting Variants
SamplesKWS2
Known GenesALDH3B2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992703
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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