A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730450



Internal ID21756771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:18283526..18283526hg38UCSC Ensembl
chr11:18305073..18305073hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381219
hg191219
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238402, nssv17243175
Samples
Known GenesHPS5
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)nsv5730450
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