A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237032



Internal ID21684541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:9023469..9023469hg38UCSC Ensembl
chr11:9045016..9045016hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38449
hg19449
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727863
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)nssv17237032
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