A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17683932



Internal ID107598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2574900..2581491hg38UCSC Ensembl
chr11:2596130..2602721hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg386592
hg196592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495712
Supporting Variants
Samples
Known GenesKCNQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17683932
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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