A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201563



Internal ID22350845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:111475237..111535335hg38UCSC Ensembl
Outerchr3:111194084..111254182hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg3860099
hg1960099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270207, nssv14270208
SamplesNA19238, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201563
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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