A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5921603



Internal ID22696827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3428906..3428963hg38UCSC Ensembl
chr12:3538072..3538129hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351299
Samples
Known GenesPRMT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5921603
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