A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254808



Internal ID22271077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:128037457..128048003hg38UCSC Ensembl
Outerchr12:128522002..128532548hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3810547
hg1910547
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223156
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254808
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