A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194945



Internal ID22345196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189627564..189658154hg38UCSC Ensembl
Outerchr3:189345353..189375943hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3830591
hg1930591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271286, nssv14271285
SamplesNA19238, NA19239
Known GenesTP63
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194945
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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