A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216647



Internal ID22362578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:131322822..131350896hg38UCSC Ensembl
Outerchr11:131192717..131220791hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3828075
hg1928075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253659, nssv14253660
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216647
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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