A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17181050



Internal ID21628559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165478452..165478452hg38UCSC Ensembl
chr1:165447689..165447689hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686281
Supporting Variants
Samples
Known GenesLOC400794
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)nssv17181050
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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