A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17183401



Internal ID21630910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177968696..177968696hg38UCSC Ensembl
chr1:177937831..177937831hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5676023
Supporting Variants
Samples
Known GenesSEC16B
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)nssv17183401
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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