A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214994



Internal ID22361473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:76580048..76669482hg38UCSC Ensembl
Outerchr10:78339806..78429240hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3889435
hg1989435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14280214, nssv14280212, nssv14280213
SamplesHG00512, HG00731, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214994
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