A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280649



Internal ID22122917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:29818419..29821312hg38UCSC Ensembl
Outerchr8:29675935..29678828hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220103
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280649
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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