A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189660



Internal ID21637169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:88904861..88904861hg38UCSC Ensembl
chr10:90664618..90664618hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700000
Supporting Variants
Samples
Known GenesSTAMBPL1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17189660
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