A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227346



Internal ID22369870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:11547399..11554787hg38UCSC Ensembl
chrUn_gl000232:62..7450hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg387389
hg197389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5632n152
Supporting Variantsnssv14301379, nssv14301375, nssv14301378, nssv14301374, nssv14301377, nssv14301373, nssv14301372, nssv14301376
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227346
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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