A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536199



Internal ID240514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81683637..81683674hg38UCSC Ensembl
chr17:79650667..79650704hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715602
Samples
Known GenesARL16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536199
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