A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697100



Internal ID21723421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:57052081..57052081hg38UCSC Ensembl
chr16:57085993..57085993hg19UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230715
Samples
Known GenesNLRC5
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)nsv5697100
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