A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562264



Internal ID22431020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27859951..27859951hg38UCSC Ensembl
chr22:28255939..28255939hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304754, nssv14304753
SamplesHG00512, HG00514
Known GenesPITPNB
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562264
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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