A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562629



Internal ID22431375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126185579..126185579hg38UCSC Ensembl
chr3:125904422..125904422hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14307916
SamplesNA19239
Known GenesALDH1L1-AS2
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)nsv3562629
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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