A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055029



Internal ID18797560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77069929..77184255hg38UCSC Ensembl
Innerchr11:76780975..76895300hg19UCSC Ensembl
Innerchr11:76458623..76572948hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38114327
hg19114326
hg18114326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1230n100
Supporting Variantsnssv3509059, nssv3502795, nssv3507449, nssv3521833, nssv3517001, nssv3504189, nssv3521763, nssv3508158, nssv3522249, nssv3515074
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)nsv1055029
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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