A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982143



Internal ID21891486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19319770..19319849hg38UCSC Ensembl
chr1:19646264..19646343hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521426
Samples
Known GenesPQLC2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982143
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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