A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654060



Internal ID21602365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40247731..40247731hg38UCSC Ensembl
chr12:40641533..40641533hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092611
SamplesHG00731
Known GenesLRRK2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654060
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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