A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030477



Internal ID18773008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7838727hg38UCSC Ensembl
Innerchr8:7267353..7696249hg19UCSC Ensembl
Innerchr8:7254763..7733659hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38428897
hg19428897
hg18478897
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3755266, nssv3679748, nssv3679750, nssv3679752, nssv3679756, nssv3755267, nssv3679751, nssv3679755, nssv3679754, nssv3679749, nssv3679757, nssv3679753
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, 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)nsv1030477
Frequency
Sample Size29084
Observed Gain8
Observed Loss4
Observed Complex0
Frequencyn/a


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