A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17016606



Internal ID78725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:139309263..139443487hg38UCSC Ensembl
chr8:140321507..140455730hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38134225
hg19134224
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483527
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17016606
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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