A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054444



Internal ID18796975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125259608..125308559hg38UCSC Ensembl
Innerchr11:125129504..125178455hg19UCSC Ensembl
Innerchr11:124634714..124683665hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3848952
hg1948952
hg1848952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3522138
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)nsv1054444
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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