A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240740



Internal ID22374777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42975425..42998166hg38UCSC Ensembl
Outerchr21:44395535..44418276hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382199
hg192199
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267111, nssv14267112, nssv14267107, nssv14267109, nssv14267114, nssv14267110, nssv14267113, nssv14267115, nssv14267108
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPKNOX1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240740
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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