A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730646



Internal ID21756967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65567838..65567838hg38UCSC Ensembl
chr11:65335309..65335309hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381036
hg191036
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243264, nssv17235104
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)nsv5730646
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