A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204004



Internal ID22352924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:146253229..146279091hg38UCSC Ensembl
Outerchr5:145632792..145658654hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3825863
hg1925863
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273390
SamplesHG00512
Known GenesRBM27
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204004
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer