A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227232



Internal ID22369792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29441255..29520583hg38UCSC Ensembl
Outerchr19:29932162..30011490hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3879329
hg1979329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264089, nssv14263603, nssv14264090
SamplesHG00512, NA19239, HG00731
Known GenesLOC284395
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227232
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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