A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276751



Internal ID22134265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:23733892..23794319hg38UCSC Ensembl
Outerchr6:23734120..23794547hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3860428
hg1960428
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201746
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276751
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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