A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704491



Internal ID21730812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103621320..103621320hg38UCSC Ensembl
chr12:104015098..104015098hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218234, nssv17193963
Samples
Known GenesSTAB2
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)nsv5704491
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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