A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2964470



Internal ID15426171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7384005..7545660hg38UCSC Ensembl
Innerchr8:7241527..7403182hg19UCSC Ensembl
Innerchr8:7228937..7390592hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38161656
hg19161656
hg18161656
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515100
Supporting Variants
SamplesNA19256
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, PRR23D1, PRR23D2, SPAG11B
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2964470
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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