A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17216062



Internal ID21663571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12167249..12167249hg38UCSC Ensembl
chr10:12209248..12209248hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704446
Supporting Variants
Samples
Known GenesSEC61A2
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)nssv17216062
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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