A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941359



Internal ID22716782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120513432..120517635hg38UCSC Ensembl
chr12:120951235..120955438hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384204
hg194204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357972
Samples
Known GenesCOQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941359
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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