A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5602548



Internal ID21551206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40247663..40247730hg38UCSC Ensembl
chr12:40641465..40641532hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17079746
SamplesHG00731
Known GenesLRRK2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5602548
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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