A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279738



Internal ID22254293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:22014834..22034714hg38UCSC Ensembl
Outerchr8:21872345..21892225hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg383028
hg193028
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221990
Supporting Variants
SamplesNA19238
Known GenesNPM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279738
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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