A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242106



Internal ID21689615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94114498..94114498hg38UCSC Ensembl
chr1:94580054..94580054hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381042
hg191042
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723659
Supporting Variants
Samples
Known GenesABCA4
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17242106
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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