A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419290



Internal ID198426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112745768..112745819hg38UCSC Ensembl
chr13:113400082..113400133hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17693741
Samples
Known GenesATP11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419290
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