A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230821



Internal ID22372037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47412801..47420964hg38UCSC Ensembl
Outerchr19:47916058..47924221hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384555
hg194555
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264770, nssv14264762, nssv14264767, nssv14264763, nssv14264765, nssv14264764, nssv14264769, nssv14264768, nssv14264766
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMEIS3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230821
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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