A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034229



Internal ID18776763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7527733..7952372hg38UCSC Ensembl
Innerchr8:7385255..7809894hg19UCSC Ensembl
Innerchr8:7372665..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38424640
hg19424640
hg18474640
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6948n100
Supporting Variantsnssv3753654, nssv3680590, nssv3680589, nssv3753652, nssv3680587, nssv3680586, nssv3680588, nssv3680591, nssv3753653
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1034229
Frequency
Sample Size29084
Observed Gain6
Observed Loss3
Observed Complex0
Frequencyn/a


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