A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692589



Internal ID116255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99502175..99502244hg38UCSC Ensembl
chr13:100154429..100154498hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500931
Supporting Variants
Samples
Known GenesTM9SF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692589
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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