A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206620



Internal ID22355135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170235207..170247700hg38UCSC Ensembl
Outerchr6:170544997..170556788hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3812494
hg1911792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276671, nssv14276669, nssv14276672, nssv14276670
SamplesNA19239, HG00731, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206620
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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