A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17220151



Internal ID21667660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119771867..119771867hg38UCSC Ensembl
chr10:121531379..121531379hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704459
Supporting Variants
Samples
Known GenesINPP5F
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)nssv17220151
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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