A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280189



Internal ID22117421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68298886..68317855hg38UCSC Ensembl
Outerchr10:70058643..70077612hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3818970
hg1918970
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216506
Supporting Variants
SamplesHG00512
Known GenesPBLD
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280189
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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