A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454739



Internal ID232835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172935444..172935517hg38UCSC Ensembl
chr4:173856595..173856668hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959244
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454739
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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