A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276108



Internal ID22270137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:26342543..26353604hg38UCSC Ensembl
Outerchr6:26342771..26353832hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3811062
hg1911062
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210321
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276108
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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