A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433121



Internal ID211847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20088958..20089030hg38UCSC Ensembl
chr1:20415451..20415523hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901012
Samples
Known GenesPLA2G5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433121
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