A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242063



Internal ID22375156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15931147..15943538hg38UCSC Ensembl
Outerchr19:16041957..16054348hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381508
hg191508
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263254, nssv14263251, nssv14263253, nssv14263252, nssv14263250
SamplesHG00731, HG00732, HG00733, HG00513, HG00514
Known GenesCYP4F11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242063
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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