A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045149



Internal ID18787680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:73603520..73870863hg38UCSC Ensembl
Innerchr11:73314565..73581908hg19UCSC Ensembl
Innerchr11:72992213..73259556hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38267344
hg19267344
hg18267344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3710656
Samples
Known GenesMRPL48, PLEKHB1, RAB6A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1045149
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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