A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112306



Internal ID21295572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:22163429..22171035hg38UCSC Ensembl
Innerchr18:19743390..19750996hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg387607
hg197607
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv514n145
Supporting Variantsnssv14100962
Samplessample404
Known GenesGATA6, GATA6-AS1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112306
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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