A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17048491



Internal ID100204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75731453..75731453hg38UCSC Ensembl
chr11:75442498..75442498hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg382019
hg192019
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412969
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17048491
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.139805


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