A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680380



Internal ID21706701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180079527..180079527hg38UCSC Ensembl
chr1:180048662..180048662hg19UCSC Ensembl
Cytoband1q25.2
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 Variantsnssv17184289
Samples
Known GenesCEP350
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)nsv5680380
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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