A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273363



Internal ID22118563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1901033..1934044hg38UCSC Ensembl
Outerchr5:1901147..1934158hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3833012
hg1933012
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207782
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273363
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