A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277290



Internal ID22217930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:62881628..62914034hg38UCSC Ensembl
Outerchr6:63591533..63623939hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3832407
hg1932407
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191342
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277290
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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