A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540465



Internal ID292770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45393718..45393774hg38UCSC Ensembl
chr3:45435210..45435266hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734856
Samples
Known GenesLARS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540465
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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