A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17224155



Internal ID21671664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:142785346..142785346hg38UCSC Ensembl
chr6:143106483..143106483hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677767
Supporting Variants
Samples
Known GenesHIVEP2
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)nssv17224155
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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