A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047617



Internal ID99619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67139828..67149767hg38UCSC Ensembl
chr11:66907299..66917238hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg389940
hg199940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508534
Supporting Variants
Samples
Known GenesKDM2A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047617
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001249


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