A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229623



Internal ID22371415
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254424, nssv14254425
SamplesHG00512, HG00732
Known GenesIFITM1, IFITM2, IFITM3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229623
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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