A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258436



Internal ID22118598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:53415164..53499277hg38UCSC Ensembl
Outerchr15:53707361..53791474hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3884114
hg1984114
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220846
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258436
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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