A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219238



Internal ID22364322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124890850..124911680hg38UCSC Ensembl
Outerchr11:124760746..124781576hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3820831
hg1920831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254462
SamplesHG00512
Known GenesROBO4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219238
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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