A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282927



Internal ID22156168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:32060285..32109218hg38UCSC Ensembl
Outerchr9:32060283..32109216hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg381299
hg191299
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238079
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282927
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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