A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205902



Internal ID22354523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:151154515..151167935hg38UCSC Ensembl
Outerchr6:151475650..151489070hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3813421
hg1913421
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276730, nssv14276733, nssv14276731, nssv14276734, nssv14276732
SamplesHG00512, HG00731, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205902
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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