A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448469



Internal ID226743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53327530..53327863hg38UCSC Ensembl
chr3:53361557..53361890hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933848
Samples
Known GenesDCP1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448469
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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