A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555223



Internal ID15995946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:66274336..66296655hg38UCSC Ensembl
Innerchr11:66041807..66064126hg19UCSC Ensembl
Innerchr11:65798383..65820702hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3822320
hg1922320
hg1822320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv778084
Samples
Known GenesCNIH2, RAB1B, TMEM151A, YIF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555223
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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