A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3189829



Internal ID22340977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21664849..21664952hg38UCSC Ensembl
chr22:22019138..22019241hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303960
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
CommentsAbsence of a ALUY mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3189829
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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