A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280213



Internal ID22155186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:76580048..76669482hg38UCSC Ensembl
Outerchr10:78339806..78429240hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3889435
hg1989435
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214994
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280213
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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