A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112603



Internal ID18924972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2444470..2445270hg38UCSC Ensembl
Outerchr11:2465700..2466500hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966708, nssv3994358
SamplesKWS1, KWS2
Known GenesKCNQ1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112603
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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