A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1293n106



Internal ID20160650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6773581..6773658hg38UCSC Ensembl
chr16:6823582..6823659hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129575, nsv1142872
SamplesKWS1, KWS2
Known GenesRBFOX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1293n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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