A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192808



Internal ID22343341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46736115..46808205hg38UCSC Ensembl
Outerchr3:46777605..46849695hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3872091
hg1972091
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5960n152
Supporting Variantsnssv14271660
SamplesNA19239
Known GenesPRSS45, PRSS46
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192808
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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