A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692711



Internal ID21719032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63308782..63308782hg38UCSC Ensembl
chr6:64018687..64018687hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178368
Samples
Known GenesLGSN
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)nsv5692711
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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