A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3148n106



Internal ID22796976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111359202..111359575hg38UCSC Ensembl
chr5:110694900..110695273hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1135207, nsv1116258, nsv1112106
SamplesKWS2, KWS1
Known GenesCAMK4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv3148n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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