A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049462



Internal ID18791993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67715176..67981775hg38UCSC Ensembl
Innerchr11:67482647..67749246hg19UCSC Ensembl
Innerchr11:67239223..67505822hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38266600
hg19266600
hg18266600
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1216n100
Supporting Variantsnssv3515047, nssv3710624, nssv3710623
Samples
Known GenesFAM86C2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049462
Frequency
Sample Size29084
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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