A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527251



Internal ID303354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:33094297..33107030hg38UCSC Ensembl
chr20:31682103..31694836hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3812734
hg1912734
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732003
Samples
Known GenesBPIFB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527251
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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