A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012396



Internal ID75939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55808595..55967439hg38UCSC Ensembl
chr8:56721154..56879998hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38158845
hg19158845
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476017
Supporting Variants
Samples
Known GenesLYN, TGS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012396
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