A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690378



Internal ID21716699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95086495..95086495hg38UCSC Ensembl
chr1:95552051..95552051hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175871, nssv17206793
Samples
Known Genes
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)nsv5690378
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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