A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687111



Internal ID110777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40803902..40803953hg38UCSC Ensembl
chr13:41378038..41378089hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg382266
hg192266
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561763
Supporting Variants
Samples
Known GenesSLC25A15, TPTE2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687111
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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