A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193248



Internal ID21640757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:90966451..90966451hg38UCSC Ensembl
chr12:91360228..91360228hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710711
Supporting Variants
Samples
Known GenesEPYC
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)nssv17193248
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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