A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6082000



Internal ID21991233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40298912..40298912hg38UCSC Ensembl
chr12:40692714..40692714hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17599913
Samples
Known GenesLRRK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6082000
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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