A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677706



Internal ID21704027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:75889929..75889929hg38UCSC Ensembl
chr6:76599646..76599646hg19UCSC Ensembl
Cytoband6q14.1
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 Variantsnssv17179942
Samples
Known GenesMYO6
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)nsv5677706
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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