A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050226



Internal ID101389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111787054..111787104hg38UCSC Ensembl
chr11:111657778..111657828hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5535131
Supporting Variants
Samples
Known GenesALG9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050226
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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