A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193147



Internal ID22343631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:41223342..41244676hg38UCSC Ensembl
Outerchr5:41223444..41244778hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3821335
hg1921335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7302n152
Supporting Variantsnssv14273367
SamplesHG00512
Known GenesC6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193147
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