A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17191087



Internal ID21638596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33318683..33318683hg38UCSC Ensembl
chr11:33340229..33340229hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694595
Supporting Variants
Samples
Known GenesHIPK3
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)nssv17191087
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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