A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6896n100



Internal ID20158512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:7137583..8160504hg38UCSC Ensembl
chr8:6995105..8018026hg19UCSC Ensembl
chr8:6982515..8055436hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381022922
hg191022922
hg181072922
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1017258, nsv1031298, nsv1015175, nsv1023098, nsv1019880, nsv1033780, nsv1031277, nsv1027675
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, 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)dgv6896n100
Frequency
Sample Size29084
Observed Gain22
Observed Loss14
Observed Complex0
Frequencyn/a


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