A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189794



Internal ID21637303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119135816..119135816hg38UCSC Ensembl
chr10:120895328..120895328hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704576
Supporting Variants
Samples
Known GenesFAM45A, FAM45B
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)nssv17189794
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