A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511314



Internal ID287902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59924049..59934581hg38UCSC Ensembl
chr13:60498183..60508715hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3810533
hg1910533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688251
Samples
Known GenesDIAPH3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511314
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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