A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503055



Internal ID279901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53532806..53541778hg38UCSC Ensembl
chr13:54106941..54115913hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg388973
hg198973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv132n206
Supporting Variantsnssv17687867
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503055
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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