A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450048



Internal ID228267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42612174..42614401hg38UCSC Ensembl
chr3:42653666..42655893hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382228
hg192228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931916
Samples
Known GenesNKTR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450048
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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