A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453738



Internal ID231851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46936388..47131530hg38UCSC Ensembl
chr3:46977878..47173020hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38195143
hg19195143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931985
Samples
Known GenesCCDC12, NBEAL2, NRADDP, SETD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453738
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