A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497424



Internal ID274458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:56332108..56409192hg38UCSC Ensembl
chr13:56906242..56983326hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg3877085
hg1977085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17688017
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497424
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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