A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024383



Internal ID19113600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7278317..7673246hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg18394930
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6927n100
Supporting Variantsnssv3680186, nssv3680183, nssv3680187, nssv3680185, nssv3680188, nssv3680184
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, 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)nsv1024383
Frequency
Sample Size11257
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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