A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705754



Internal ID21732075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:72222446..72222446hg38UCSC Ensembl
chr10:73982204..73982204hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188183
Samples
Known GenesANAPC16
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)nsv5705754
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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