A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433730



Internal ID212433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64108777..64108828hg38UCSC Ensembl
chr14:64575495..64575546hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698182
Samples
Known GenesMIR548AZ, SYNE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433730
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