A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687649



Internal ID111315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49552287..49555512hg38UCSC Ensembl
chr13:50126423..50129648hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383226
hg193226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502714
Supporting Variants
Samples
Known GenesRCBTB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687649
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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