A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700681



Internal ID21727002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20315164..20315164hg38UCSC Ensembl
chr14:20783323..20783323hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230642, nssv17194659
Samples
Known GenesCCNB1IP1
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)nsv5700681
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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