A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031289



Internal ID18773822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7364449..7969833hg38UCSC Ensembl
Innerchr8:7221971..7827355hg19UCSC Ensembl
Innerchr8:7209381..7864765hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38605385
hg19605385
hg18655385
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3678867
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031289
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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