A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5727654



Internal ID21753975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60727795..60727795hg38UCSC Ensembl
chr11:60495268..60495268hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252627, nssv17250775
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)nsv5727654
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer