A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442332



Internal ID220760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52690553..52692565hg38UCSC Ensembl
chr3:52724569..52726581hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg382013
hg192013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932773
Samples
Known GenesGNL3, SNORD19B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442332
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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