A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610055



Internal ID16050778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397983..7536511hg38UCSC Ensembl
Innerchr8:7255505..7394033hg19UCSC Ensembl
Innerchr8:7242915..7381443hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38138529
hg19138529
hg18138529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11915n54
Supporting Variantsnssv1105735, nssv1105736, nssv1105742, nssv1105738, nssv1105739, nssv1105740, nssv1105737, nssv1105741
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610055
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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