A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042729



Internal ID18785260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77069929..77159463hg38UCSC Ensembl
Innerchr11:76780975..76870509hg19UCSC Ensembl
Innerchr11:76458623..76548157hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3889535
hg1989535
hg1889535
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1230n100
Supporting Variantsnssv3512512
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)nsv1042729
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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