A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231528



Internal ID22372250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65787438..65796235hg38UCSC Ensembl
Outerchr14:66254156..66262953hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382341
hg192341
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258192, nssv14258190, nssv14258186, nssv14258187, nssv14258191, nssv14258188, nssv14258189, nssv14258193, nssv14258185
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231528
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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