A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17042117



Internal ID95782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2847690..2848053hg38UCSC Ensembl
chr11:2868920..2869283hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38364
hg19364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499800
Supporting Variants
Samples
Known GenesKCNQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17042117
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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