A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509641



Internal ID286290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2594369..2595071hg38UCSC Ensembl
chr11:2615599..2616301hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17043621
Samples
Known GenesKCNQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509641
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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