A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729274



Internal ID21755595
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 StatusM
Merged Variants
Supporting Variantsnssv17245190, nssv17238772
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)nsv5729274
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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