A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444008



Internal ID222390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:46881569..46881812hg38UCSC Ensembl
chr3:46923059..46923302hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931981
Samples
Known GenesPTH1R
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444008
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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