A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246076



Internal ID22376318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:65506006..65525625hg38UCSC Ensembl
Outerchr11:65273477..65293096hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254524, nssv14254523, nssv14254522, nssv14254527, nssv14254526, nssv14254525
SamplesHG00512, NA19238, NA19239, HG00732, HG00733, HG00513
Known GenesMALAT1, MIR548AR, MIR548BA, SCYL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246076
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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