A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258406



Internal ID22145076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101775964..101787543hg38UCSC Ensembl
Outerchr14:102242301..102253880hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3811580
hg1911580
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227264
Supporting Variants
SamplesHG00514
Known GenesPPP2R5C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258406
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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