A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179172



Internal ID21626681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13320577..13320577hg38UCSC Ensembl
chr6:13320809..13320809hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678634
Supporting Variants
Samples
Known GenesTBC1D7
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)nssv17179172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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