A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211723



Internal ID22359193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58796933..58850361hg38UCSC Ensembl
Outerchr11:58564406..58617834hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3853429
hg1953429
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253339, nssv14253340
SamplesNA19238, HG00731
Known GenesGLYATL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211723
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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