A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3511511



Internal ID18463106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77069929..77170879hg38UCSC Ensembl
Innerchr11:76780975..76881925hg19UCSC Ensembl
Innerchr11:76458623..76559573hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38100951
hg19100951
hg18100951
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044709
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)nssv3511511
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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