A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5717826



Internal ID21744147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3973970..3973970hg38UCSC Ensembl
chr11:3995200..3995200hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237664, nssv17251355
Samples
Known GenesSTIM1
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)nsv5717826
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