A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218836



Internal ID22364056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73510967..73573099hg38UCSC Ensembl
Outerchr14:73977671..74039803hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3862133
hg1962133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257206, nssv14257205, nssv14257204, nssv14257209, nssv14257207, nssv14257208
SamplesNA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesACOT1, ACOT2, HEATR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218836
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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