A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6381273



Internal ID21038826
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 StatusM
Merged Variants
Supporting Variantsnssv18215827
Samples
Known GenesCDH6, DROSHA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6381273
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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