A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044007



Internal ID18786538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:12208935..12685051hg38UCSC Ensembl
Innerchr11:12230482..12706598hg19UCSC Ensembl
Innerchr11:12187058..12663174hg18UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38476117
hg19476117
hg18476117
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1059n100
Supporting Variantsnssv3512830, nssv3506829
Samples
Known GenesMICAL2, MICALCL, PARVA, TEAD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044007
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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