A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6028105



Internal ID21937448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120507697..120507770hg38UCSC Ensembl
chr12:120945500..120945573hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17598733
Samples
Known GenesCOQ5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6028105
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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