A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18134367



Internal ID20701407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59552444..59556667hg38UCSC Ensembl
chr5:58848270..58852493hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg384224
hg194224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411220
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18134367
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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