A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044709



Internal ID18787240
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 StatusM
Merged Variantsdgv1230n100
Supporting Variantsnssv3514241, nssv3511511
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)nsv1044709
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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