A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17225408



Internal ID21672917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178767655..178767655hg38UCSC Ensembl
chr2:179632382..179632382hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5683551
Supporting Variants
Samples
Known GenesTTN
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)nssv17225408
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