A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16932704



Internal ID22526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48387184..48387409hg38UCSC Ensembl
chr3:48428675..48428900hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434488
Supporting Variants
Samples
Known GenesFBXW12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16932704
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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