A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7125n100



Internal ID20158741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18325949..18404169hg38UCSC Ensembl
chr8:18183458..18261679hg19UCSC Ensembl
chr8:18227738..18305959hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3878221
hg1978222
hg1878222
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1015759, nsv1034305, nsv1026186, nsv1017393, nsv1027895
Samples
Known GenesNAT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7125n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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