A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6955n100



Internal ID20158571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7540351..8160504hg38UCSC Ensembl
chr8:7397873..8018026hg19UCSC Ensembl
chr8:7385283..8055436hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38620154
hg19620154
hg18670154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1023541, nsv1028789, nsv1020847, nsv1019224
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6955n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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