A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17194460



Internal ID21641969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244409858..244409858hg38UCSC Ensembl
chr1:244573160..244573160hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688918
Supporting Variants
Samples
Known GenesADSS
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)nssv17194460
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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