A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237669



Internal ID22373936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:9229785..9242331hg38UCSC Ensembl
Outerchr9:9229785..9242331hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg382407
hg192407
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280817, nssv14280818, nssv14280816
SamplesHG00512, NA19239, HG00514
Known GenesPTPRD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237669
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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