A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4739624



Internal ID20515599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20643062..20643137hg38UCSC Ensembl
chr1:20969555..20969630hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16273868
Samples
Known GenesPINK1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4739624
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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