A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687504



Internal ID111170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46735821..46735940hg38UCSC Ensembl
chr13:47309956..47310075hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511722
Supporting Variants
Samples
Known GenesLRCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687504
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001561


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