A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6244679



Internal ID22049289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110758960..110758960hg38UCSC Ensembl
chr5:110094660..110094660hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17859044
Samples
Known GenesSLC25A46
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6244679
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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