A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695712



Internal ID21722033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:114443693..114443693hg38UCSC Ensembl
chr10:116203452..116203452hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189259
Samples
Known GenesABLIM1
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)nsv5695712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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