A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687047



Internal ID110713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39633575..39738123hg38UCSC Ensembl
chr13:40207712..40312260hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38104549
hg19104549
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505075
Supporting Variants
Samples
Known GenesCOG6, MIR4305
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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