A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6062448



Internal ID21971681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133446591..133446591hg38UCSC Ensembl
chr3:133165435..133165435hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17555528
Samples
Known GenesBFSP2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6062448
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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