A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1359n106



Internal ID22795187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54246013..54246068hg38UCSC Ensembl
chr16:54279925..54279980hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1138454, nsv1116147
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1359n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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