A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6089182



Internal ID21998415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53724188..53724188hg38UCSC Ensembl
chr12:54117972..54117972hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17616893
Samples
Known GenesCALCOCO1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6089182
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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