A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702468



Internal ID21728789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14043946..14043946hg38UCSC Ensembl
chr11:14065493..14065493hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17190366, nssv17229605
Samples
Known GenesSPON1
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)nsv5702468
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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