A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049476



Internal ID18792007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77136867..77216980hg38UCSC Ensembl
Innerchr11:76847913..76928025hg19UCSC Ensembl
Innerchr11:76525561..76605673hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3880114
hg1980113
hg1880113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3516009
Samples
Known GenesGDPD4, MYO7A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049476
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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