A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028270



Internal ID19117488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7778136hg38UCSC Ensembl
Innerchr8:7250368..7635658hg19UCSC Ensembl
Innerchr8:7237778..7673068hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38385291
hg19385291
hg18435291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6908n100
Supporting Variantsnssv3679017
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1028270
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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