A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125114



Internal ID20692154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131268824..131286054hg38UCSC Ensembl
chr5:130604517..130621747hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3817231
hg1917231
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6403076
Supporting Variants
Samples
Known GenesCDC42SE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125114
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