A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698277



Internal ID21724598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:88980189..88980189hg38UCSC Ensembl
chr10:90739946..90739946hg19UCSC Ensembl
Cytoband10q23.31
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 Variantsnssv17215346, nssv17189120
Samples
Known GenesACTA2
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)nsv5698277
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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