A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4142n106



Internal ID22797970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128130321..128138321hg38UCSC Ensembl
chr9:130892600..130900600hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1141647, nsv1110582
SamplesKWS2, KWS1
Known GenesPTGES2-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv4142n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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