A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517185



Internal ID293611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38390795..38391918hg38UCSC Ensembl
chr19:38881435..38882558hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381124
hg191124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723254
Samples
Known GenesSPRED3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517185
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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