A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683491



Internal ID21709812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:4074950..4074950hg38UCSC Ensembl
chr6:4075184..4075184hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179146, nssv17214859
Samples
Known GenesFAM217A
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)nsv5683491
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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