A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190810



Internal ID21638319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13387544..13387544hg38UCSC Ensembl
chr12:13540478..13540478hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5709956
Supporting Variants
Samples
Known Genes
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)nssv17190810
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