A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023368



Internal ID18765901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7598490hg38UCSC Ensembl
Innerchr8:7267353..7456012hg19UCSC Ensembl
Innerchr8:7254763..7443422hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38188660
hg19188660
hg18188660
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6925n100
Supporting Variantsnssv3679734, nssv3679733, nssv3679735
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, 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)nsv1023368
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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