A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239556



Internal ID21687065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:9083003..9083003hg38UCSC Ensembl
chr11:9104550..9104550hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716918
Supporting Variants
Samples
Known GenesSCUBE2
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)nssv17239556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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