A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16963415



Internal ID42933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:365337..589487hg38UCSC Ensembl
chr5:365452..589602hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38224151
hg19224151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460235
Supporting Variants
Samples
Known GenesAHRR, C5orf55, EXOC3, MIR4456, PP7080, SLC9A3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16963415
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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