A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049274



Internal ID18791805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77064328..77166429hg38UCSC Ensembl
Innerchr11:76775375..76877475hg19UCSC Ensembl
Innerchr11:76453023..76555123hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38102102
hg19102101
hg18102101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1230n100
Supporting Variantsnssv3515801
Samples
Known GenesCAPN5, MYO7A, OMP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049274
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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