A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700897



Internal ID21727218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17126989..17126989hg38UCSC Ensembl
chr11:17148536..17148536hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17190410, nssv17227861
Samples
Known GenesPIK3C2A
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)nsv5700897
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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