A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1118227



Internal ID15971413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:104004638..104128382hg38UCSC Ensembl
Innerchr8:105016866..105140610hg19UCSC Ensembl
Innerchr8:105086042..105209786hg18UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38123745
hg19123745
hg18123745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv611834
Supporting Variants
Samples
Known GenesRIMS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1118227
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