A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045772



Internal ID18788303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77102549..77216980hg38UCSC Ensembl
Innerchr11:76813595..76928025hg19UCSC Ensembl
Innerchr11:76491243..76605673hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38114432
hg19114431
hg18114431
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1231n100
Supporting Variantsnssv3515539
Samples
Known GenesCAPN5, GDPD4, 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)nsv1045772
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