A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556476



Internal ID16343885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:120576121..120680391hg38UCSC Ensembl
Innerchr11:120446830..120551100hg19UCSC Ensembl
Innerchr11:119952040..120056310hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38104271
hg19104271
hg18104271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174960
Samples1780854441_A
Known GenesGRIK4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556476
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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