A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696482



Internal ID120148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35397203..35397203hg38UCSC Ensembl
chr14:35866409..35866409hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg381751
hg191751
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549952
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696482
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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