A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700302



Internal ID21726623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46100454..46100454hg38UCSC Ensembl
chr11:46122005..46122005hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17190002
Samples
Known GenesPHF21A
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)nsv5700302
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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