A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707601



Internal ID21733922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:24921215..24921215hg38UCSC Ensembl
chr10:25210144..25210144hg19UCSC 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 Variantsnssv17188087
Samples
Known GenesPRTFDC1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5707601
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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