A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280527



Internal ID22270648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:38714151..38730302hg38UCSC Ensembl
Outerchr8:38571669..38587820hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246045
Supporting Variants
SamplesNA19239
Known GenesTACC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280527
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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