A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257876



Internal ID22294105
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248026
Supporting Variants
SamplesNA19240
Known GenesCPSF2, NDUFB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257876
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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