A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534448



Internal ID310249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45211387..45211409hg38UCSC Ensembl
chr13:45785522..45785544hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687387
Samples
Known GenesGTF2F2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534448
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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