A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723595



Internal ID147261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45668116..45670518hg38UCSC Ensembl
chr19:46171374..46173776hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg382403
hg192403
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520909
Supporting Variants
Samples
Known GenesGIPR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723595
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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