A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724092



Internal ID21750413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27509842..27509842hg38UCSC Ensembl
chr6:27477621..27477621hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240529, nssv17249976
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)nsv5724092
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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