A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv768281



Internal ID15715551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:16890704..17946708hg38UCSC Ensembl
Innerchr11:16912251..17968255hg19UCSC Ensembl
Innerchr11:16868827..17924831hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381056005
hg191056005
hg181056005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv553567
Supporting Variants
Samples
Known GenesABCC8, KCNC1, KCNJ11, MYOD1, NCR3LG1, NUCB2, OR7E14P, OTOG, PIK3C2A, PLEKHA7, RPS13, SERGEF, USH1C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv768281
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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