A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17013603



Internal ID76743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:64540057..64540628hg38UCSC Ensembl
chr8:65452614..65453185hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485877
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17013603
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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