A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197045



Internal ID22346970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:179320816..179385158hg38UCSC Ensembl
Outerchr2:180185543..180249885hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3864343
hg1964343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265257, nssv14265258
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197045
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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