A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17184729



Internal ID21632238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66947638..66947638hg38UCSC Ensembl
chr8:67859873..67859873hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5712900
Supporting Variants
Samples
Known GenesTCF24
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)nssv17184729
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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