A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221032



Internal ID22365556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30138122..30145286hg38UCSC Ensembl
Outerchr19:30629029..30636193hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg387165
hg197165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264098, nssv14264097
SamplesNA19239, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221032
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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