A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17009300



Internal ID73835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:30362906..30362906hg38UCSC Ensembl
chr8:30220422..30220422hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381447
hg191447
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541722
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17009300
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.27229


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer