A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041420



Internal ID18783951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77087907..77187728hg38UCSC Ensembl
Innerchr11:76798953..76898773hg19UCSC Ensembl
Innerchr11:76476601..76576421hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3899822
hg1999821
hg1899821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1232n100
Supporting Variantsnssv3511928
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)nsv1041420
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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