A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530086



Internal ID306082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:1984049..1984107hg38UCSC Ensembl
chr20:1964695..1964753hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730290
Samples
Known GenesPDYN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530086
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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