A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274838



Internal ID22216499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:71255973..71272555hg38UCSC Ensembl
Outerchr6:71965676..71982258hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3816583
hg1916583
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207897
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274838
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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