A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17735866



Internal ID159532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130535525..130535525hg38UCSC Ensembl
chr8:131547771..131547771hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5399494
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17735866
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.053583


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