A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421040



Internal ID200129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93336354..93336405hg38UCSC Ensembl
chr12:93730130..93730181hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684130
Samples
Known GenesLOC643339
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421040
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