A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905163



Internal ID4254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78494677..78499113hg38UCSC Ensembl
chr1:78960362..78964798hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384437
hg194437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424494
Supporting Variants
Samples
Known GenesPTGFR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905163
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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