A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189594



Internal ID21637103
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 StatusS
Merged Variantsnsv5710463
Supporting Variants
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)nssv17189594
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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