A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17192745



Internal ID21640254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232838582..232838582hg38UCSC Ensembl
chr1:232974328..232974328hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682377
Supporting Variants
Samples
Known Genes
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)nssv17192745
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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