A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216206



Internal ID20783246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:325922..451281hg38UCSC Ensembl
chr5:326037..451396hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38125360
hg19125360
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6376281
Supporting Variants
Samples
Known GenesAHRR, C5orf55, EXOC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216206
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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