A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17050231



Internal ID101394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111841768..111841819hg38UCSC Ensembl
chr11:111712491..111712542hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431788
Supporting Variants
Samples
Known GenesALG9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17050231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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