A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677208



Internal ID21703529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84756963..84756963hg38UCSC Ensembl
chr2:84984087..84984087hg19UCSC Ensembl
Cytoband2p11.2
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 Variantsnssv17207560, nssv17209284
Samples
Known GenesDNAH6
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)nsv5677208
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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