A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966440



Internal ID44949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41859905..41859910hg38UCSC Ensembl
chr5:41860007..41860012hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550791
Supporting Variants
Samples
Known GenesOXCT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966440
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006126


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