A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1793n106



Internal ID20161150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48365352..48365442hg38UCSC Ensembl
chr19:48868609..48868699hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126501, nsv1135927
SamplesKWS1
Known GenesSYNGR4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1793n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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