A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457065



Internal ID235120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115217175..115217317hg38UCSC Ensembl
chr5:114552872..114553014hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971694
Samples
Known GenesPGGT1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457065
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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