A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993275



Internal ID21902618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:19872575..20059843hg38UCSC Ensembl
chr3:19914067..20101335hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38187269
hg19187269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17550429
Samples
Known GenesEFHB, KAT2B, PP2D1, RAB5A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993275
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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