A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698007



Internal ID21724328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3587690..3587690hg38UCSC Ensembl
chr16:3637691..3637691hg19UCSC Ensembl
Cytoband16p13.3
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 Variantsnssv17198286, nssv17216618
Samples
Known GenesSLX4
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)nsv5698007
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer