A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214688



Internal ID22361268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:46434603..46462216hg38UCSC Ensembl
Outerchr19:46937860..46965473hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3827614
hg1927614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262566, nssv14262562, nssv14262564, nssv14262567, nssv14263480, nssv14263481, nssv14262563, nssv14262561, nssv14262565
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214688
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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