A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610100



Internal ID16050823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7775316..8248986hg38UCSC Ensembl
Innerchr8:7632838..8106508hg19UCSC Ensembl
Innerchr8:7670248..8143918hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38473671
hg19473671
hg18473671
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11928n54
Supporting Variantsnssv1105809
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM86B3P, MIR548I3, PRR23D1, PRR23D2, 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)nsv610100
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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