A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6868n100



Internal ID20158484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6266604..6447293hg38UCSC Ensembl
chr8:6124125..6304814hg19UCSC Ensembl
chr8:6111533..6292222hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38180690
hg19180690
hg18180690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1026950, nsv1028552, nsv1024103, nsv1025734, nsv1022940
Samples
Known GenesLOC100287015, MCPH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6868n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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