A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179221



Internal ID21626730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16409823..16409823hg38UCSC Ensembl
chr6:16410054..16410054hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682645
Supporting Variants
Samples
Known GenesATXN1
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)nssv17179221
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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