A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982350



Internal ID21891693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20646938..20647008hg38UCSC Ensembl
chr1:20973431..20973501hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17519491
Samples
Known GenesPINK1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982350
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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