A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553588



Internal ID15994311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17691960..17770275hg38UCSC Ensembl
Innerchr11:17713507..17791822hg19UCSC Ensembl
Innerchr11:17670083..17748398hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3878316
hg1978316
hg1878316
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv768329
Samples
Known GenesKCNC1, MYOD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553588
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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