A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212846



Internal ID22359970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58818003..58880091hg38UCSC Ensembl
Outerchr11:58585476..58647564hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3862089
hg1962089
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254440, nssv14254442, nssv14254441
SamplesHG00512, HG00731, HG00733
Known GenesGLYATL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212846
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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