A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556122



Internal ID15996845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:100022550..100715158hg38UCSC Ensembl
Innerchr11:99893282..100585889hg19UCSC Ensembl
Innerchr11:99398492..100091099hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg38692609
hg19692608
hg18692608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv781990
Samples
Known GenesARHGAP42, CNTN5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556122
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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