A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705846



Internal ID21732167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:55150016..55150016hg38UCSC Ensembl
chr17:53227377..53227377hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200662
Samples
Known GenesSTXBP4
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)nsv5705846
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