A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3799n106



Internal ID20163156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27660651..27660737hg38UCSC Ensembl
chr8:27518168..27518254hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1134914, nsv1117487
SamplesKWS1, KWS2
Known GenesSCARA3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3799n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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