A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531219



Internal ID307181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49054504..49054736hg38UCSC Ensembl
chr17:47131866..47132098hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724621
Samples
Known GenesIGF2BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531219
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