A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197900



Internal ID22347714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248694569..248763682hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3869114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253826, nssv14253824, nssv14253825
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197900
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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