A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421138



Internal ID200224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40919294..40919345hg38UCSC Ensembl
chr13:41493430..41493481hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687122
Samples
Known GenesSUGT1P3, TPTE2P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421138
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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