A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696231



Internal ID21722552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:80491874..80491874hg38UCSC Ensembl
chr10:82251630..82251630hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188238
Samples
Known GenesTSPAN14
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)nsv5696231
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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