A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524247



Internal ID300455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48929728..48937034hg38UCSC Ensembl
chr19:49432985..49440291hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg387307
hg197307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17723938
Samples
Known GenesDHDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524247
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