A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693756



Internal ID21720077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70482628..70482628hg38UCSC Ensembl
chr2:70709760..70709760hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208024, nssv17206203
Samples
Known GenesTGFA
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)nsv5693756
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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