A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227264



Internal ID22369812
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2759n152
Supporting Variantsnssv14258406
SamplesHG00514
Known GenesPPP2R5C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227264
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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