A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193345



Internal ID21640854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110030550..110030550hg38UCSC Ensembl
chr12:110468355..110468355hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5705133
Supporting Variants
Samples
Known GenesANKRD13A
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)nssv17193345
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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