A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258917



Internal ID22201274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101040673..101085958hg38UCSC Ensembl
Outerchr14:101507010..101552295hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3845286
hg1945286
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211375
Supporting Variants
SamplesHG00732
Known GenesMEG9, MIR1185-1, MIR1185-2, MIR134, MIR154, MIR300, MIR323B, MIR369, MIR376A1, MIR377, MIR381, MIR381HG, MIR382, MIR409, MIR410, MIR412, MIR485, MIR487A, MIR487B, MIR496, MIR539, MIR541, MIR655, MIR656, MIR668, MIR889
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258917
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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