A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198418



Internal ID22348143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:190120736..190157349hg38UCSC Ensembl
Outerchr1:190089866..190126479hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3836614
hg1936614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258619
SamplesHG00732
Known GenesBRINP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198418
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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