A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248026



Internal ID22376862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:92120941..92168804hg38UCSC Ensembl
Outerchr14:92587285..92635148hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg382591
hg192591
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257874, nssv14257875, nssv14257873, nssv14257872, nssv14257876
SamplesNA19238, HG00731, NA19240, HG00513, HG00514
Known GenesCPSF2, NDUFB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248026
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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