A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221053



Internal ID22365568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:15807624..15828409hg38UCSC Ensembl
Outerchr9:15807622..15828407hg19UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg3820786
hg1920786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281147, nssv14281146, nssv14281145, nssv14281144
SamplesNA19238, NA19239, NA19240, HG00513
Known GenesCCDC171
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221053
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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