A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610119



Internal ID16050842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7829864..7903250hg38UCSC Ensembl
Innerchr8:7687386..7760772hg19UCSC Ensembl
Innerchr8:7724796..7798182hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3873387
hg1973387
hg1873387
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1105836, nssv1105835, nssv1105837
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB4A, SPAG11A, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610119
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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