A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473318



Internal ID251005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154225744..154225810hg38UCSC Ensembl
chr5:153605304..153605370hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975216
Samples
Known GenesGALNT10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473318
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