A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17193286



Internal ID21640795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93680237..93680237hg38UCSC Ensembl
chr12:94074013..94074013hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696214
Supporting Variants
Samples
Known GenesCRADD
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)nssv17193286
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