A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254424



Internal ID22117240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:303475..332264hg38UCSC Ensembl
Outerchr11:303475..332264hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3828790
hg1928790
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229623
Supporting Variants
SamplesHG00512
Known GenesIFITM1, IFITM2, IFITM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254424
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