A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193094



Internal ID21640603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95975362..95975362hg38UCSC Ensembl
chr12:96369140..96369140hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5711772
Supporting Variants
Samples
Known GenesHAL
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)nssv17193094
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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