A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999937



Internal ID20566977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20549901..20551100hg38UCSC Ensembl
chr12:20702835..20704034hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6455705
Supporting Variants
Samples
Known GenesPDE3A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999937
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00039


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