A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17999071



Internal ID20566111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40254240..40254741hg38UCSC Ensembl
chr12:40648042..40648543hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459536
Supporting Variants
Samples
Known GenesLRRK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17999071
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00087


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