A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427557



Internal ID206459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:33848896..33848947hg38UCSC Ensembl
chr13:34423033..34423084hg19UCSC Ensembl
Cytoband13q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686786
Samples
Known GenesRFC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427557
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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