A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6099665



Internal ID22008898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123728907..123728907hg38UCSC Ensembl
chr12:124213454..124213454hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17603511
Samples
Known GenesATP6V0A2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6099665
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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