A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105827



Internal ID15612327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7826767..8197410hg38UCSC Ensembl
Innerchr8:7684289..8054932hg19UCSC Ensembl
Innerchr8:7721699..8092342hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38370644
hg19370644
hg18370644
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610112
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB106A, DEFB106B, DEFB109P1B, DEFB4A, FAM66E, MIR548I3, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105827
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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