A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3207928



Internal ID22356253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:72418106..72459925hg38UCSC Ensembl
Outerchr3:72467257..72509076hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg3841820
hg1941820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271001
SamplesNA19238
Known GenesRYBP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3207928
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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