A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17186399



Internal ID21633908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:27181067..27181067hg38UCSC Ensembl
chr9:27181065..27181065hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38252
hg19252
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5708424
Supporting Variants
Samples
Known GenesTEK
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)nssv17186399
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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