A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196819



Internal ID22346769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:104680739..104716147hg38UCSC Ensembl
Outerchr1:105223361..105258769hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3835409
hg1935409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266052, nssv14266051
SamplesNA19238, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196819
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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