A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278357



Internal ID22129725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:106260262..106283044hg38UCSC Ensembl
Outerchr10:108020020..108042802hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg3822783
hg1922783
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213831
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278357
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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