A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5494602



Internal ID271739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48049956..48050331hg38UCSC Ensembl
chr13:48624092..48624467hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687574
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5494602
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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