A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255810



Internal ID22144691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:754178..771230hg38UCSC Ensembl
Outerchr12:863344..880396hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3817053
hg1917053
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226829
Supporting Variants
SamplesHG00514
Known GenesWNK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255810
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