A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992620



Internal ID21901963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178316249..178631849hg38UCSC Ensembl
chr3:178034037..178349637hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38315601
hg19315601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17554369
Samples
Known GenesKCNMB2, LINC01014
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992620
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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