A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009294



Internal ID73831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30309882..30309895hg38UCSC Ensembl
chr8:30167398..30167411hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541343
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004221


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