A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519629



Internal ID295977
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 StatusM
Merged Variants
Supporting Variantsnssv17711865
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519629
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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