A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276677



Internal ID22302013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:100931413..100936536hg38UCSC Ensembl
Outerchr6:101379289..101384412hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg385124
hg195124
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203084
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276677
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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