A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563366



Internal ID336301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41406025..41421448hg38UCSC Ensembl
chr5:41406127..41421550hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3815424
hg1915424
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966412
Samples
Known GenesPLCXD3
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563366
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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