A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221963



Internal ID22366181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41640639..41667280hg38UCSC Ensembl
Outerchr19:42147007..42171208hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3826642
hg1924202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262553, nssv14262552, nssv14262549, nssv14262554, nssv14262551, nssv14262550
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221963
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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