A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998087



Internal ID66270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73306860..73306969hg38UCSC Ensembl
chr7:72720856..72720965hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484721
Supporting Variants
Samples
Known GenesNSUN5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998087
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009522


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