A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2704n100



Internal ID20154320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6604481..6643079hg38UCSC Ensembl
chr16:6654482..6693080hg19UCSC Ensembl
chr16:6594483..6633081hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3838599
hg1938599
hg1838599
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1039256, nsv1054193, nsv1048330, nsv1041707, nsv1051202, nsv1046705, nsv1053179, nsv1037976
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)dgv2704n100
Frequency
Sample Size29084
Observed Gain20
Observed Loss0
Observed Complex0
Frequencyn/a


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