A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17178375



Internal ID21625884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63720880..63720880hg38UCSC Ensembl
chr6:64430776..64430776hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5681263
Supporting Variants
Samples
Known GenesEYS
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)nssv17178375
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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