A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706594



Internal ID21732915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131240476..131240476hg38UCSC Ensembl
chr7:130925235..130925235hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184027
Samples
Known GenesMKLN1
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)nsv5706594
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