A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17618518



Internal ID21810565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46313828..46313828hg38UCSC Ensembl
chr19:46817085..46817085hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6101581
Supporting Variants
Samples
Known GenesHIF3A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17618518
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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