A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279190



Internal ID22134283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:10140050..10153358hg38UCSC Ensembl
Outerchr8:9997560..10010868hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381040
hg191040
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210606
Supporting Variants
SamplesHG00513
Known GenesMSRA
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279190
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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