A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17696238



Internal ID119904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52506516..52506855hg38UCSC Ensembl
chr14:52973234..52973573hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504778
Supporting Variants
Samples
Known GenesTXNDC16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17696238
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.091661


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