A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205203



Internal ID22353931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24809860..24833282hg38UCSC Ensembl
Outerchr6:24810088..24833510hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3823423
hg1923423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276428, nssv14276427, nssv14276429, nssv14276432, nssv14276433, nssv14276431, nssv14276430
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesFAM65B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205203
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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