A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494313



Internal ID271464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100034979..100059000hg38UCSC Ensembl
chr13:100687233..100711254hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg3824022
hg1924022
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692619
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494313
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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