A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214893



Internal ID22361401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:88508456..88540518hg38UCSC Ensembl
Outerchr11:88241624..88273686hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3832063
hg1932063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253525
SamplesHG00731
Known GenesGRM5, GRM5-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214893
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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