A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191435



Internal ID22342141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:192884480..192895491hg38UCSC Ensembl
Outerchr1:192853610..192864621hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3811012
hg1911012
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255055
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191435
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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