A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190002



Internal ID21637511
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 StatusS
Merged Variantsnsv5700302
Supporting Variants
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)nssv17190002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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