A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210114



Internal ID22358082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:131977033..131998430hg38UCSC Ensembl
Outerchr3:131695877..131717274hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3821398
hg1921398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270252, nssv14270249, nssv14270248, nssv14270250, nssv14270251, nssv14270253
SamplesNA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCPNE4, MIR5704
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210114
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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