A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1134082



Internal ID18930670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2773711..2773775hg38UCSC Ensembl
Outerchr11:2794941..2795005hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970426
SamplesKWS2
Known GenesKCNQ1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1134082
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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