A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496635



Internal ID273709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:56956400..57337267hg38UCSC Ensembl
chr13:57530534..57911401hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38380868
hg19380868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688056
Samples
Known GenesPRR20A, PRR20B, PRR20C, PRR20D, PRR20E
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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