A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693836



Internal ID21720157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36302559..36302559hg38UCSC Ensembl
chr6:36270336..36270336hg19UCSC Ensembl
Cytoband6p21.31
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 Variantsnssv17178823, nssv17229329
Samples
Known GenesPNPLA1
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)nsv5693836
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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