A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711510



Internal ID21737831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79749410..79749410hg38UCSC Ensembl
chr12:80143190..80143190hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193190, nssv17215802
Samples
Known Genes
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)nsv5711510
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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