A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6815n100



Internal ID20158431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2193919..3295843hg38UCSC Ensembl
chr8:2141450..3153365hg19UCSC Ensembl
chr8:2128857..3140772hg18UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg381101925
hg191011916
hg181011916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015411, nsv1032365
Samples
Known GenesCSMD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv6815n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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