A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281062



Internal ID22186109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:140349123..140357992hg38UCSC Ensembl
Outerchr8:141359222..141368091hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381012
hg191012
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232791
Supporting Variants
SamplesHG00731
Known GenesTRAPPC9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281062
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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