A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279248



Internal ID22154850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:130217359..130229504hg38UCSC Ensembl
Outerchr10:132015623..132027768hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3812146
hg1912146
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226694
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279248
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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