A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206845



Internal ID22355330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:154297938..154303452hg38UCSC Ensembl
Outerchr6:154619072..154624586hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg385515
hg195515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274806, nssv14274805, nssv14274804
SamplesHG00731, HG00732, HG00733
Known GenesIPCEF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206845
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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