A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17195180



Internal ID21642689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:32686803..32686803hg38UCSC Ensembl
chr14:33156009..33156009hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696495
Supporting Variants
Samples
Known GenesAKAP6
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)nssv17195180
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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