A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690380



Internal ID21716701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12360046..12360046hg38UCSC Ensembl
chr1:12420102..12420102hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17173834
Samples
Known GenesVPS13D
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)nsv5690380
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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