A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216436



Internal ID22362428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58036358..58093540hg38UCSC Ensembl
Outerchr11:57803830..57861012hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3857183
hg1957183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253334, nssv14253335
SamplesNA19238, NA19240
Known GenesOR9Q1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216436
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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