A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694214



Internal ID117880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:111215144..111215347hg38UCSC Ensembl
chr13:111867491..111867694hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5507617
Supporting Variants
Samples
Known GenesARHGEF7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694214
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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