A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193280



Internal ID21640789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93411018..93411018hg38UCSC Ensembl
chr12:93804794..93804794hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696679
Supporting Variants
Samples
Known GenesUBE2N
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)nssv17193280
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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