A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17196192



Internal ID21643701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:46959058..46959058hg38UCSC Ensembl
chr14:47428261..47428261hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696805
Supporting Variants
Samples
Known GenesMDGA2
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)nssv17196192
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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