A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276416



Internal ID22253832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:19764383..19784374hg38UCSC Ensembl
Outerchr6:19764614..19784605hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3819992
hg1919992
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195894
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276416
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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