A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704907



Internal ID128573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6014803..6113010hg38UCSC Ensembl
chr16:6064804..6163011hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3898208
hg1998208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5530905
Supporting Variants
Samples
Known GenesRBFOX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704907
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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