A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv287n106



Internal ID22794115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228608453..228647153hg38UCSC Ensembl
chr1:228744200..228782900hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3838701
hg1938701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115380, nsv1132321
SamplesKWS2, KWS1
Known GenesDUSP5P1, RHOU
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv287n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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