A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531538



Internal ID307495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49164546..49164819hg38UCSC Ensembl
chr17:47241908..47242181hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724631
Samples
Known GenesB4GALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531538
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