A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17185596



Internal ID21633105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129856837..129856837hg38UCSC Ensembl
chr8:130869083..130869083hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5700937
Supporting Variants
Samples
Known GenesFAM49B
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)nssv17185596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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