A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610126



Internal ID16050849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7836263..7903250hg38UCSC Ensembl
Innerchr8:7693785..7760772hg19UCSC Ensembl
Innerchr8:7731195..7798182hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3866988
hg1966988
hg1866988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11933n54
Supporting Variantsnssv1105847, nssv1105846
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)nsv610126
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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