A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7148n100



Internal ID19017516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:25410448..25473361hg38UCSC Ensembl
chr8:25267964..25330877hg19UCSC Ensembl
chr8:25323881..25386794hg18UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3862914
hg1962914
hg1862914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026037, nsv1023717
Samples
Known GenesCDCA2, DOCK5, GNRH1, KCTD9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7148n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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