A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689221



Internal ID21715542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177700922..177700922hg38UCSC Ensembl
chr1:177670057..177670057hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184136, nssv17206295
Samples
Known Genes
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)nsv5689221
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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