A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202618



Internal ID22351756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181272960..181288658hg38UCSC Ensembl
Outerchr5:180699961..180715659hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3815699
hg1915699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7688n152
Supporting Variantsnssv14273336
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202618
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