A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027478



Internal ID18770010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7894609hg38UCSC Ensembl
Innerchr8:7214599..7752131hg19UCSC Ensembl
Innerchr8:7202009..7789541hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38537533
hg19537533
hg18587533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3678565
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027478
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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