A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17043622



Internal ID96810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2599143..2599582hg38UCSC Ensembl
chr11:2620373..2620812hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5509095
Supporting Variants
Samples
Known GenesKCNQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17043622
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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