A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193727



Internal ID21641236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123212786..123212786hg38UCSC Ensembl
chr12:123697333..123697333hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713387
Supporting Variants
Samples
Known GenesMPHOSPH9
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)nssv17193727
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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