A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692700



Internal ID116366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:105015816..105094621hg38UCSC Ensembl
chr13:105668167..105746972hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg3878806
hg1978806
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497492
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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