A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17552268



Internal ID21876623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125034192..125034192hg38UCSC Ensembl
chr3:124753036..124753036hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6061361
Supporting Variants
Samples
Known GenesHEG1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17552268
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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