A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191452



Internal ID22342156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:113892617..113911659hg38UCSC Ensembl
Outerchr6:114213781..114232823hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3819043
hg1919043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276779, nssv14276780
SamplesHG00732, HG00513
Known GenesFLJ34503
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191452
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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