A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280528



Internal ID22117237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:41035203..41065158hg38UCSC Ensembl
Outerchr8:40892722..40922677hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg382326
hg192326
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249793
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280528
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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