A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724625



Internal ID148291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49125272..49134550hg38UCSC Ensembl
chr17:47202634..47211912hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg389279
hg199279
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529231
Supporting Variants
Samples
Known GenesB4GALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724625
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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