A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237537



Internal ID22373895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:36279996..36325068hg38UCSC Ensembl
Outerchr11:36301546..36346618hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254132, nssv14254139, nssv14254136, nssv14254133, nssv14254134, nssv14254138, nssv14254140, nssv14254137, nssv14254135
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCOMMD9, PRR5L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237537
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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