A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5398204



Internal ID177602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157300398..157300449hg38UCSC Ensembl
chr2:158156910..158156961hg19UCSC Ensembl
Cytoband2q24.1
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 Variantsnssv16921314
Samples
Known GenesGALNT5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5398204
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