A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053306



Internal ID18795837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125205392..125218374hg38UCSC Ensembl
Innerchr11:125075288..125088270hg19UCSC Ensembl
Innerchr11:124580498..124593480hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3812983
hg1912983
hg1812983
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1292n100
Supporting Variantsnssv3522312
Samples
Known GenesPKNOX2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053306
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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