A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420286



Internal ID199391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20137512..20145077hg38UCSC Ensembl
chr1:20464005..20471570hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg387566
hg197566
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901017
Samples
Known GenesPLA2G2F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420286
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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