A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16935742



Internal ID24545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72415386..72415437hg38UCSC Ensembl
chr3:72464537..72464588hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403298
Supporting Variants
Samples
Known GenesRYBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16935742
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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