A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216930



Internal ID22362762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:12370388..12370728hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5640n152
Supporting Variantsnssv14302162, nssv14302157, nssv14302158, nssv14302156, nssv14302161, nssv14302159, nssv14302160, nssv14302163
SamplesHG00512, 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)nsv3216930
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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