A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17051678



Internal ID102293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128857622..128868856hg38UCSC Ensembl
chr11:128727517..128738751hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3811235
hg1911235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513278
Supporting Variants
Samples
Known GenesKCNJ1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17051678
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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