A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1903n106



Internal ID20161260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:45414729..45414798hg38UCSC Ensembl
chr2:45641868..45641937hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1129635, nsv1142274
SamplesKWS1, KWS2
Known GenesSRBD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1903n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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