A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280486



Internal ID22117275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:129734721..129747367hg38UCSC Ensembl
Outerchr8:130746967..130759613hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg388900
hg198900
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3239180
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280486
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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