A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5943480



Internal ID22718929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59389079..59436689hg38UCSC Ensembl
chr13:59963213..60010823hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg3847611
hg1947611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371371
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5943480
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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