A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050228



Internal ID101391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111814221..111814308hg38UCSC Ensembl
chr11:111684945..111685032hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498674
Supporting Variants
Samples
Known GenesALG9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050228
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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