A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700155



Internal ID21726476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13326961..13326961hg38UCSC Ensembl
chr10:13368961..13368961hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187651
Samples
Known GenesSEPHS1
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)nsv5700155
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