A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17174848



Internal ID21622357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93337287..93337287hg38UCSC Ensembl
chr1:93802844..93802844hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5681434
Supporting Variants
Samples
Known GenesLOC100131564
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)nssv17174848
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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