A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033368



Internal ID18775902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7439806..7541457hg38UCSC Ensembl
Innerchr8:7297328..7398979hg19UCSC Ensembl
Innerchr8:7284738..7386389hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38101652
hg19101652
hg18101652
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6941n100
Supporting Variantsnssv3680268, nssv3680263, nssv3756525, nssv3680269, nssv3680265, nssv3680266, nssv3680267, nssv3756526, nssv3680264
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nsv1033368
Frequency
Sample Size29084
Observed Gain2
Observed Loss7
Observed Complex0
Frequencyn/a


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