A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6961n100



Internal ID20158577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7775544..7952372hg38UCSC Ensembl
chr8:7633066..7809894hg19UCSC Ensembl
chr8:7670476..7847304hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38176829
hg19176829
hg18176829
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1034454, nsv1016285, nsv1017127, nsv1028324, nsv1033983
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)dgv6961n100
Frequency
Sample Size29084
Observed Gain29
Observed Loss33
Observed Complex0
Frequencyn/a


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