A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17219329



Internal ID21666838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63076354..63076354hg38UCSC Ensembl
chr8:63988913..63988913hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5714084
Supporting Variants
Samples
Known GenesTTPA
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)nssv17219329
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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