A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226336



Internal ID22369171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:114595051..114641120hg38UCSC Ensembl
Outerchr11:114465773..114511842hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3846070
hg1946070
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1581n152
Supporting Variantsnssv14254214, nssv14254422, nssv14254423
SamplesNA19240, HG00733, HG00514
Known GenesNXPE4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226336
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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