A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018774



Internal ID18761307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7896858hg38UCSC Ensembl
Innerchr8:7214599..7754380hg19UCSC Ensembl
Innerchr8:7202009..7791790hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38539782
hg19539782
hg18589782
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3678569, nssv3678567, nssv3754158, nssv3678568, nssv3678570, nssv3678566, nssv3678571
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1018774
Frequency
Sample Size29084
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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