A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695183



Internal ID118849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45350175..45547494hg38UCSC Ensembl
chr14:45819378..46016697hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38197320
hg19197320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502616
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695183
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004528


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