A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680375



Internal ID21706696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52372867..52372867hg38UCSC Ensembl
chr6:52237665..52237665hg19UCSC Ensembl
Cytoband6p12.2
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 Variantsnssv17178864
Samples
Known GenesPAQR8
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)nsv5680375
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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