A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5202n100



Internal ID20156818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47486414..47904818hg38UCSC Ensembl
chr4:47488431..47906835hg19UCSC Ensembl
chr4:47183188..47601592hg18UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38418405
hg19418405
hg18418405
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000337, nsv997471, nsv1008515
Samples
Known GenesATP10D, CORIN, MIR8053, NFXL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5202n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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