A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2713n100



Internal ID19013081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6954123..6983747hg38UCSC Ensembl
chr16:7004124..7033748hg19UCSC Ensembl
chr16:6944125..6973749hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3829625
hg1929625
hg1829625
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1036957, nsv1055002
Samples
Known GenesRBFOX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2713n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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