A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729735



Internal ID21756056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111922055..111922055hg38UCSC Ensembl
chr6:112243258..112243258hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17250119, nssv17238775
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5729735
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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