A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558234



Internal ID331305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:19972102..19972103hg38UCSC Ensembl
chr3:20013594..20013595hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg382
hg192
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16930573
Samples
Known GenesRAB5A
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558234
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