A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6948n100



Internal ID20158564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7513944..7952372hg38UCSC Ensembl
chr8:7371466..7809894hg19UCSC Ensembl
chr8:7358876..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38438429
hg19438429
hg18488429
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1028128, nsv1018507, nsv1026601, nsv1034954, nsv1028515, nsv1027963, nsv1030854, nsv1017720, nsv1032595, nsv1025762, nsv1026129, nsv1025062, nsv1030583, nsv1016959, nsv1029975, nsv1022443, nsv1016580, nsv1034229, nsv1025580, nsv1022607, nsv1031032, nsv1016119, nsv1018068, nsv1021977, nsv1030189, nsv1018807, nsv1024061, nsv1030633, nsv1022038, nsv1023595
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6948n100
Frequency
Sample Size29084
Observed Gain70
Observed Loss71
Observed Complex0
Frequencyn/a


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