A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729569



Internal ID21755890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45028074..45028074hg38UCSC Ensembl
chr13:45602209..45602209hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238232
Samples
Known GenesGPALPP1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5729569
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