A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255548



Internal ID22200184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22415909..22431905hg38UCSC Ensembl
Outerchr12:22568843..22584839hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3815997
hg1915997
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220666
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255548
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