A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690947



Internal ID21717268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152739605..152739605hg38UCSC Ensembl
chr6:153060740..153060740hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180757
Samples
Known Genes
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)nsv5690947
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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