A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225589



Internal ID22368673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:70449855..70469209hg38UCSC Ensembl
Outerchr17:68445996..68465350hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3819355
hg1919355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260996, nssv14260997, nssv14260992, nssv14260995, nssv14260993, nssv14260994
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225589
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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