A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274836



Internal ID22216496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:69483123..69495688hg38UCSC Ensembl
Outerchr6:70193015..70205580hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3812566
hg1912566
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197701
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274836
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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