A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500362



Internal ID277300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:2491306..2493313hg38UCSC Ensembl
chr11:2512536..2514543hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382008
hg192008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17043615
Samples
Known GenesKCNQ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500362
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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