A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258391



Internal ID22132418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:32112349..32147636hg38UCSC Ensembl
Outerchr14:32581555..32616842hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3835288
hg1935288
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228531
Supporting Variants
SamplesHG00513
Known GenesARHGAP5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258391
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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