A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691179



Internal ID21717500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197138195..197138195hg38UCSC Ensembl
chr1:197107325..197107325hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186751
Samples
Known GenesASPM
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)nsv5691179
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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