A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040000



Internal ID18782531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125207472..125218592hg38UCSC Ensembl
Innerchr11:125077368..125088488hg19UCSC Ensembl
Innerchr11:124582578..124593698hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3811121
hg1911121
hg1811121
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1294n100
Supporting Variantsnssv3511278, nssv3509414, nssv3506279, nssv3514313, nssv3521701, nssv3502917, nssv3510511, nssv3518125, nssv3512566, nssv3513933, nssv3520740
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)nsv1040000
Frequency
Sample Size29084
Observed Gain4
Observed Loss7
Observed Complex0
Frequencyn/a


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