A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209266



Internal ID22357371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170632773..170684783hg38UCSC Ensembl
Outerchr6:170941861..170993871hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3852011
hg1952011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8301n152
Supporting Variantsnssv14276080, nssv14276077, nssv14276078, nssv14276081, nssv14276079
SamplesHG00512, NA19238, NA19239, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209266
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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