A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17180099



Internal ID21627608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:107096131..107096131hg38UCSC Ensembl
chr6:107417335..107417335hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5693910
Supporting Variants
Samples
Known GenesBEND3
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)nssv17180099
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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