A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5674520



Internal ID21700841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2773783..2773783hg38UCSC Ensembl
chr6:2774017..2774017hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222269, nssv17179138
Samples
Known GenesWRNIP1
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)nsv5674520
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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