A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695872



Internal ID21722193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3549671..3549671hg38UCSC Ensembl
chr16:3599671..3599671hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198285
Samples
Known GenesNLRC3
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)nsv5695872
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