A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994358



Internal ID18870586
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 StatusS
Merged Variantsnsv1112603
Supporting Variants
SamplesKWS1
Known GenesKCNQ1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994358
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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