A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964480



Internal ID43621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40694448..40694562hg38UCSC Ensembl
chr5:40694550..40694664hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466387
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.022011


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