A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1789n106



Internal ID22795617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46648943..46649843hg38UCSC Ensembl
chr19:47152200..47153100hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1144876, nsv1112745
SamplesKWS2, KWS1
Known GenesDACT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1789n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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