A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201599



Internal ID22350875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:82646751..82682811hg38UCSC Ensembl
Outerchr1:83112434..83148494hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3836061
hg1936061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261060, nssv14261057, nssv14261058, nssv14261062, nssv14261061, nssv14261059, nssv14261056, nssv14261055
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201599
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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