A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205099



Internal ID22353849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:135082033..135101170hg38UCSC Ensembl
Outerchr3:134800875..134820012hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3819138
hg1919138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271707, nssv14271706, nssv14271708
SamplesNA19239, HG00732, HG00733
Known GenesEPHB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205099
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