A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412969



Internal ID192268
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 StatusM
Merged Variants
Supporting Variantsnssv17048491
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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