A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203364



Internal ID22352390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:140803717..140833226hg38UCSC Ensembl
Outerchr3:140522559..140552068hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3829510
hg1929510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271510, nssv14271715, nssv14271714, nssv14271712, nssv14271716, nssv14271713
SamplesNA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203364
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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