A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022163



Internal ID18764697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7779763..7941317hg38UCSC Ensembl
Innerchr8:7637285..7798839hg19UCSC Ensembl
Innerchr8:7674695..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38161555
hg19161555
hg18161555
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6962n100
Supporting Variantsnssv3680889, nssv3680891, nssv3680890
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1022163
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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