A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039214



Internal ID18781745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125207472..125221672hg38UCSC Ensembl
Innerchr11:125077368..125091568hg19UCSC Ensembl
Innerchr11:124582578..124596778hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3814201
hg1914201
hg1814201
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1294n100
Supporting Variantsnssv3518153, nssv3521081
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)nsv1039214
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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