A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6099180



Internal ID22008413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:22665555..22665555hg38UCSC Ensembl
chr12:22818489..22818489hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382628
hg192628
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17604965
Samples
Known GenesETNK1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6099180
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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