A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2591n106



Internal ID22796419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126535072..126535170hg38UCSC Ensembl
chr3:126253915..126254013hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1133325, nsv1143062
SamplesKWS2, KWS1
Known GenesCHST13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2591n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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