A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710463



Internal ID21736784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:69850419..69850419hg38UCSC Ensembl
chr10:71610175..71610175hg19UCSC Ensembl
Cytoband10q22.1
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 Variantsnssv17227034, nssv17189594
Samples
Known GenesCOL13A1
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)nsv5710463
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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