A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905489



Internal ID4470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84486440..84486461hg38UCSC Ensembl
chr1:84952123..84952144hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545614
Supporting Variants
Samples
Known GenesRPF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905489
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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