A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190901



Internal ID22341691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:229993960..230003109hg38UCSC Ensembl
Outerchr1:230129707..230138856hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg389150
hg199150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281934, nssv14281933
SamplesNA19238, HG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190901
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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