A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213524



Internal ID22360445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1425610..1433783hg38UCSC Ensembl
Outerchr11:1446840..1455013hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg388174
hg198174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1220n152
Supporting Variantsnssv14253256, nssv14253255, nssv14253254, nssv14253253, nssv14253251, nssv14253252
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesBRSK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213524
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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