A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240351



Internal ID22374679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:38180534..38197871hg38UCSC Ensembl
Outerchr22:38576541..38593878hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381159
hg191159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269197, nssv14268164, nssv14268166, nssv14268622, nssv14268165, nssv14268621, nssv14268623, nssv14268167
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesPLA2G6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240351
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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