A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195609



Internal ID22345758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:23051576..23068362hg38UCSC Ensembl
Outerchr2:23274447..23291233hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3816787
hg1916787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264725
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195609
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