A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17687646



Internal ID111312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49548864..49549069hg38UCSC Ensembl
chr13:50123000..50123205hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502097
Supporting Variants
Samples
Known GenesRCBTB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17687646
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.299406


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