A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228219



Internal ID22370478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74305649..74329562hg38UCSC Ensembl
Outerchr11:74016694..74040607hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3823914
hg1923914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253063, nssv14253062, nssv14253061, nssv14253066, nssv14253064, nssv14253065
SamplesHG00512, NA19238, HG00732, HG00733, HG00513, HG00514
Known GenesP4HA3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228219
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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