A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198069



Internal ID22347849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:133783414..133803876hg38UCSC Ensembl
Outerchr3:133502258..133522720hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3820463
hg1920463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270267, nssv14270262, nssv14270266, nssv14270263, nssv14270265, nssv14270264
SamplesHG00512, NA19238, HG00731, HG00732, HG00513, HG00514
Known GenesSRPRB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198069
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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