A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258394



Internal ID22132424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:60104721..60183806hg38UCSC Ensembl
Outerchr14:60571439..60650524hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3879086
hg1979086
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214673
Supporting Variants
SamplesHG00513
Known GenesDHRS7, PCNXL4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258394
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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