A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513366



Internal ID289892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100169740..100173850hg38UCSC Ensembl
chr13:100821994..100826104hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg384111
hg194111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692634
Samples
Known GenesPCCA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513366
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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