A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17225003



Internal ID21672512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111494624..111494624hg38UCSC Ensembl
chr6:111815827..111815827hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679308
Supporting Variants
Samples
Known GenesTRAF3IP2-AS1
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)nssv17225003
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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