A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701623



Internal ID21727944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78069931..78069931hg38UCSC Ensembl
chr11:77780977..77780977hg19UCSC Ensembl
Cytoband11q14.1
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 Variantsnssv17229043
Samples
Known GenesNDUFC2, NDUFC2-KCTD14, RNU6-83P
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)nsv5701623
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