A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007408



Internal ID72580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:10644901..10645411hg38UCSC Ensembl
chr8:10502411..10502921hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483880
Supporting Variants
Samples
Known GenesRP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007408
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