A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694244



Internal ID21720565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:36254141..36254141hg38UCSC Ensembl
chr6:36221918..36221918hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178820
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)nsv5694244
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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