A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17182988



Internal ID21630497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171490385..171490385hg38UCSC Ensembl
chr1:171459524..171459524hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5681104
Supporting Variants
Samples
Known GenesPRRC2C
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)nssv17182988
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