A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253475



Internal ID22144334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:131950705..131961212hg38UCSC Ensembl
Outerchr10:133764209..133774716hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg382081
hg192081
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234825
Supporting Variants
SamplesHG00514
Known GenesPPP2R2D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253475
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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