A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209491



Internal ID22357557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:194489032..194498144hg38UCSC Ensembl
Outerchr1:194458162..194467274hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg389113
hg199113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255113
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209491
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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