A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967610



Internal ID45718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:86568620..86568858hg38UCSC Ensembl
chr5:85864437..85864675hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5470672
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967610
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