A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5748n100



Internal ID22791835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102137471..102186521hg38UCSC Ensembl
chr5:101473175..101522225hg19UCSC Ensembl
chr5:101501074..101550124hg18UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3849051
hg1949051
hg1849051
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027347, nsv1024899
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5748n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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