A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17245190



Internal ID21692699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94157273..94157273hg38UCSC Ensembl
chr13:94809527..94809527hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5729274
Supporting Variants
Samples
Known GenesGPC6, GPC6-AS1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17245190
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