A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3512512



Internal ID18464107
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 StatusS
Merged Variantsnsv1042729
Supporting Variants
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)nssv3512512
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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