A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226429



Internal ID22369231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:17059907..17078286hg38UCSC Ensembl
Outerchr3:17101399..17119778hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271321, nssv14271320, nssv14271322, nssv14271323, nssv14271324
SamplesNA19238, HG00731, HG00732, NA19240, HG00513
Known GenesPLCL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226429
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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