A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279196



Internal ID22258856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:10547142..10566974hg38UCSC Ensembl
Outerchr8:10404652..10424484hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382359
hg192359
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211080
Supporting Variants
SamplesNA19238
Known GenesPRSS55
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279196
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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