A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4763589



Internal ID20539449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193362750..193362750hg38UCSC Ensembl
chr3:193080539..193080539hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16266558
Samples
Known GenesATP13A5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4763589
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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