A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727509



Internal ID21753830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119832960..119832960hg38UCSC Ensembl
chr8:120845200..120845200hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247019, nssv17234765
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)nsv5727509
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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