A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17206720



Internal ID21654229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165690069..165690069hg38UCSC Ensembl
chr1:165659306..165659306hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5676710
Supporting Variants
Samples
Known GenesALDH9A1
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)nssv17206720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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