A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280342



Internal ID22219781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:53593214..53595052hg38UCSC Ensembl
Outerchr8:54505774..54507612hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg381119
hg191119
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230532
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280342
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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