A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210871



Internal ID22358624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17286777..17313266hg38UCSC Ensembl
Outerchr22:17767667..17794156hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3826490
hg1926490
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269394, nssv14269393
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210871
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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