A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506443



Internal ID283191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:58634255..58634355hg38UCSC Ensembl
chr13:59208389..59208489hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688174
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506443
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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