A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17721316



Internal ID144982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10406958..10466336hg38UCSC Ensembl
chr19:10517634..10577012hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3859379
hg1959379
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144280
Supporting Variants
Samples
Known GenesPDE4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17721316
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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