A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479172



Internal ID256704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:32035253..32039985hg38UCSC Ensembl
chr8:31892769..31897501hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg384733
hg194733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009342
Samples
Known GenesNRG1, NRG1-IT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479172
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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