A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5907250



Internal ID22682455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192219542..192270856hg38UCSC Ensembl
chr3:191937331..191988645hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3851315
hg1951315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17425867
Samples
Known GenesFGF12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5907250
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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