A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993246



Internal ID21902589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196664991..196669936hg38UCSC Ensembl
chr3:196391862..196396807hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384946
hg194946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17556640
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993246
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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