A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723659



Internal ID21749980
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 StatusM
Merged Variants
Supporting Variantsnssv17249150, nssv17242106
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)nsv5723659
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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