A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498957



Internal ID275937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120289474..120289584hg38UCSC Ensembl
chr11:120160183..120160293hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053260
Samples
Known GenesPOU2F3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498957
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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