A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203084



Internal ID22352154
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8032n152
Supporting Variantsnssv14275581, nssv14276677
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203084
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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