A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711865



Internal ID135531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17622554..17630693hg38UCSC Ensembl
chr17:17525868..17534007hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388140
hg198140
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519629
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711865
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004685


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