A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700378



Internal ID21726699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122974441..122974441hg38UCSC Ensembl
chr9:125736720..125736720hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187814
Samples
Known GenesRABGAP1
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)nsv5700378
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