A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5681185



Internal ID21707506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136856925..136856925hg38UCSC Ensembl
chr6:137178063..137178063hg19UCSC Ensembl
Cytoband6q23.3
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 Variantsnssv17226853, nssv17179741
Samples
Known GenesPEX7
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)nsv5681185
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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