A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676870



Internal ID21703191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149388651..149388651hg38UCSC Ensembl
chr1:145207166..145207166hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204692, nssv17180038
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)nsv5676870
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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