A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17188140



Internal ID21635649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:45408502..45408502hg38UCSC Ensembl
chr10:45903950..45903950hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5702858
Supporting Variants
Samples
Known GenesALOX5
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)nssv17188140
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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