A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17206731



Internal ID21654240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:167889451..167889451hg38UCSC Ensembl
chr1:167858689..167858689hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677471
Supporting Variants
Samples
Known GenesADCY10
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)nssv17206731
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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