A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17224419



Internal ID21671928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58051432..58051432hg38UCSC Ensembl
chr1:58517104..58517104hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693885
Supporting Variants
Samples
Known GenesDAB1
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)nssv17224419
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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