A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105752



Internal ID15612252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7418480..7497822hg38UCSC Ensembl
Innerchr8:7276002..7355344hg19UCSC Ensembl
Innerchr8:7263412..7342754hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3879343
hg1979343
hg1879343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610064
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105752
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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