A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234587



Internal ID22373076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40514814..40543494hg38UCSC Ensembl
Outerchr22:40910818..40939498hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381250
hg191250
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270009, nssv14270015, nssv14270012, nssv14270014, nssv14270010, nssv14270011, nssv14270013
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesMKL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234587
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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