A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195430



Internal ID22345617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1626128..1642182hg38UCSC Ensembl
Outerchr5:1626243..1642297hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3816055
hg1916055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273709
SamplesHG00732
Known GenesLOC728613
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195430
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