A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050227



Internal ID101390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111789594..111789692hg38UCSC Ensembl
chr11:111660318..111660416hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504756
Supporting Variants
Samples
Known GenesALG9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050227
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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