A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115086



Internal ID21298352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:190407098..190410102hg38UCSC Ensembl
Innerchr2:191271824..191274828hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg383005
hg193005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14102323
Samplessample24
Known GenesMFSD6
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115086
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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