A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694736



Internal ID21721057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:100502029..100502029hg38UCSC Ensembl
chr9:103264311..103264311hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17231264
Samples
Known GenesMSANTD3-TMEFF1, TMEFF1
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)nsv5694736
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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