A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449568



Internal ID227800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:153873390..154551945hg38UCSC Ensembl
chr2:154729903..155408457hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38678556
hg19678555
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16920604
Samples
Known GenesGALNT13, LOC100144595
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449568
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