A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277000



Internal ID22154093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:85202323..85239265hg38UCSC Ensembl
Outerchr6:85912041..85948983hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg382078
hg192078
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225782
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277000
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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