A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701090



Internal ID21727411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73872350..73872350hg38UCSC Ensembl
chr11:73583395..73583395hg19UCSC Ensembl
Cytoband11q13.4
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 Variantsnssv17226625, nssv17190132
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)nsv5701090
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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