A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209014



Internal ID22357156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:225442631..225474039hg38UCSC Ensembl
Outerchr1:225630333..225661741hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3831409
hg1931409
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254552
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209014
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