A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111572



Internal ID21294838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30753371..30756774hg38UCSC Ensembl
Innerchr12:30906305..30909708hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg383404
hg193404
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv242n145
Supporting Variantsnssv14093739
Samplessample349
Known GenesCAPRIN2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111572
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