A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18215827



Internal ID20782867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31192592..31472561hg38UCSC Ensembl
chr5:31192699..31472668hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38279970
hg19279970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6381273
Supporting Variants
Samples
Known GenesCDH6, DROSHA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18215827
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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