A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228769



Internal ID22370846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58684929..58700013hg38UCSC Ensembl
Outerchr11:58452402..58467486hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3815085
hg1915085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253337, nssv14253338, nssv14253336
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228769
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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