A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016240



Internal ID18758775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7358208..8160504hg38UCSC Ensembl
Innerchr8:7215730..8018026hg19UCSC Ensembl
Innerchr8:7203140..8055436hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38802297
hg19802297
hg18852297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6912n100
Supporting Variantsnssv3678808
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016240
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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