A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258445



Internal ID22118606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:71581124..71593572hg38UCSC Ensembl
Outerchr15:71873463..71885911hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3812449
hg1912449
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216559
Supporting Variants
SamplesHG00512
Known GenesTHSD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258445
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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