A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18134332



Internal ID20701372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59235445..59475721hg38UCSC Ensembl
chr5:58531271..58771547hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38240277
hg19240277
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413669
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18134332
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