A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17230844



Internal ID21678353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123633426..123633426hg38UCSC Ensembl
chr9:126395705..126395705hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696499
Supporting Variants
Samples
Known GenesDENND1A
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)nssv17230844
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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