A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198543



Internal ID22348250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:80945501..81081366hg38UCSC Ensembl
Outerchr2:81172625..81308490hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38135866
hg19135866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4648n152
Supporting Variantsnssv14265441, nssv14265439, nssv14265440
SamplesHG00512, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198543
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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