A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700325



Internal ID21726646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:73509126..73509126hg38UCSC Ensembl
chr10:75268884..75268884hg19UCSC Ensembl
Cytoband10q22.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218361
Samples
Known GenesUSP54
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)nsv5700325
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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