A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723598



Internal ID147264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45675541..45699724hg38UCSC Ensembl
chr19:46178799..46202982hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3824184
hg1924184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533449
Supporting Variants
Samples
Known GenesGIPR, QPCTL, SNRPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723598
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001718


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