A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215369



Internal ID22361726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39211647..39211967hg38UCSC Ensembl
chr22:39607652..39607972hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14303580, nssv14303582, nssv14303581, nssv14303584, nssv14303579, nssv14303583
SamplesHG00512, NA19238, NA19239, HG00732, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215369
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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