A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049494



Internal ID18792025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120529406..120582672hg38UCSC Ensembl
Innerchr11:120400115..120453381hg19UCSC Ensembl
Innerchr11:119905325..119958591hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3853267
hg1953267
hg1853267
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1290n100
Supporting Variantsnssv3516025
Samples
Known GenesGRIK4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049494
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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