A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215841



Internal ID20782881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131283537..131317326hg38UCSC Ensembl
chr5:130619230..130653019hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3833790
hg1933790
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406432
Supporting Variants
Samples
Known GenesCDC42SE2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215841
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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