A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17204692



Internal ID21652201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149388651..149388651hg38UCSC Ensembl
chr1:145207166..145207166hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5676870
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9
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)nssv17204692
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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