A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5674603



Internal ID21700924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202992028..202992028hg38UCSC Ensembl
chr1:202961156..202961156hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17207008, nssv17187903
Samples
Known GenesLOC401980
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)nsv5674603
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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