A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5383n100



Internal ID22791470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:125816644..125885234hg38UCSC Ensembl
chr4:126737799..126806389hg19UCSC Ensembl
chr4:126957249..127025839hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3868591
hg1968591
hg1868591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1008511, nsv1015081, nsv997795
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)dgv5383n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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