A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553567



Internal ID15994290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:16890704..17946708hg38UCSC Ensembl
Innerchr11:16912251..17968255hg19UCSC Ensembl
Innerchr11:16868827..17924831hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381056005
hg191056005
hg181056005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv768281
Samples
Known GenesABCC8, KCNC1, KCNJ11, MYOD1, NCR3LG1, NUCB2, OR7E14P, OTOG, PIK3C2A, PLEKHA7, RPS13, SERGEF, USH1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553567
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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