A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218453



Internal ID22363787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:72088819..72130171hg38UCSC Ensembl
Outerchr15:72381160..72422512hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3841353
hg1941353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258808, nssv14258807, nssv14258802, nssv14258804, nssv14258803, nssv14258805, nssv14258806
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesMYO9A, SENP8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218453
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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