A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400701



Internal ID180081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:24921215..24921266hg38UCSC Ensembl
chr10:25210144..25210195hg19UCSC Ensembl
Cytoband10p12.1
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 Variantsnssv17032257
Samples
Known GenesPRTFDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400701
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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