A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216997



Internal ID22362806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104933226..104959403hg38UCSC Ensembl
Outerchr14:105399563..105425740hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3826178
hg1926178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257234, nssv14257232, nssv14257233, nssv14257235
SamplesNA19238, HG00732, HG00513, HG00514
Known GenesAHNAK2, PLD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216997
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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