A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677791



Internal ID21704112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70269560..70269560hg38UCSC Ensembl
chr6:70979263..70979263hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219622, nssv17178919
Samples
Known GenesCOL9A1
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)nsv5677791
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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