A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240902



Internal ID22374811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:127915806..127939628hg38UCSC Ensembl
Outerchr10:129714070..129737892hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38517
hg19517
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253495
SamplesHG00731
Known GenesPTPRE
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240902
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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