A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484721



Internal ID262129
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 StatusM
Merged Variants
Supporting Variantsnssv16998087
Samples
Known GenesNSUN5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484721
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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