A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258794



Internal ID22118740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:71413168..71428889hg38UCSC Ensembl
Outerchr15:71705507..71721228hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3815722
hg1915722
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216865
Supporting Variants
SamplesHG00512
Known GenesTHSD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258794
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer