A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191936



Internal ID22342581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69337087..69341383hg38UCSC Ensembl
Outerchr1:69802770..69807066hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg384297
hg194297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260247, nssv14260245, nssv14260246, nssv14260248
SamplesHG00512, NA19238, HG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191936
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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