A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526430



Internal ID302560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:54214406..54215297hg38UCSC Ensembl
chr20:52830945..52831836hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38892
hg19892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733102
Samples
Known GenesPFDN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526430
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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