A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178840



Internal ID21626349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50751132..50751132hg38UCSC Ensembl
chr6:50718845..50718845hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690564
Supporting Variants
Samples
Known GenesTFAP2D
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)nssv17178840
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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