A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229916



Internal ID22371611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:47693126..47704995hg38UCSC Ensembl
chr22:48088875..48100744hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3811870
hg1911870
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303320, nssv14303322, nssv14303315, nssv14303319, nssv14303323, nssv14303316, nssv14303318, nssv14303317, nssv14303321
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229916
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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