A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478903



Internal ID21136456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120502911..120505852hg38UCSC Ensembl
chr12:120940714..120943655hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382942
hg192942
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180272
Samples
Known GenesCOQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478903
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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