A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040065



Internal ID18782596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17534484..17731920hg38UCSC Ensembl
Innerchr11:17556031..17753467hg19UCSC Ensembl
Innerchr11:17512607..17710043hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38197437
hg19197437
hg18197437
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3708521
Samples
Known GenesMYOD1, OTOG, USH1C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040065
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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