A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3201728



Internal ID22350989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46736775..46812174hg38UCSC Ensembl
Outerchr3:46778265..46853664hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3875400
hg1975400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5960n152
Supporting Variantsnssv14270416, nssv14270417, nssv14270418
SamplesNA19238, NA19239, NA19240
Known GenesPRSS45
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3201728
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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