A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693233



Internal ID116899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78019530..78022614hg38UCSC Ensembl
chr13:78593665..78596749hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg383085
hg193085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508931
Supporting Variants
Samples
Known GenesLINC00446
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693233
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.043688


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