A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047361



Internal ID18789892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77087907..77144196hg38UCSC Ensembl
Innerchr11:76798953..76855242hg19UCSC Ensembl
Innerchr11:76476601..76532890hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3856290
hg1956290
hg1856290
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3518540
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)nsv1047361
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer