A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17225175



Internal ID21672684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24822702..24822702hg38UCSC Ensembl
chr14:25291908..25291908hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696012
Supporting Variants
Samples
Known GenesSTXBP6
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)nssv17225175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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