A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695899



Internal ID119565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:58828105..58828164hg38UCSC Ensembl
chr14:59294823..59294882hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500922
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695899
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01709


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