A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610057



Internal ID16050780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397983..7917598hg38UCSC Ensembl
Innerchr8:7255505..7775120hg19UCSC Ensembl
Innerchr8:7242915..7812530hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38519616
hg19519616
hg18569616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11911n54
Supporting Variantsnssv1105744
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610057
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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