A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250189



Internal ID22377466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105228893..105252245hg38UCSC Ensembl
Outerchr14:105695230..105718582hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg382112
hg192112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258017, nssv14258014, nssv14258016, nssv14258015
SamplesHG00512, NA19238, HG00513, HG00514
Known GenesBRF1, BTBD6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250189
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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