A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216871



Internal ID22362719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14616192..14624155hg38UCSC Ensembl
Outerchr19:14727004..14734967hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg387964
hg197964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263302, nssv14263300, nssv14263301
SamplesNA19240, HG00733, HG00514
Known GenesEMR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216871
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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