A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5103n100



Internal ID19015471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:9368964..9632366hg38UCSC Ensembl
chr4:9370690..9633990hg19UCSC Ensembl
chr4:8979788..9243088hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38263403
hg19263301
hg18263301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv998504, nsv999172, nsv998351, nsv997355
Samples
Known GenesDEFB131, LOC650293, MIR548I2, USP17L6P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5103n100
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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