A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208674



Internal ID22356874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:64634215..64668800hg38UCSC Ensembl
Outerchr6:65344108..65378693hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3834586
hg1934586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274995, nssv14274994, nssv14274999, nssv14275002, nssv14275000, nssv14274997, nssv14275001, nssv14274998, nssv14274996
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesEYS
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208674
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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