A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1388n106



Internal ID20160745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89618792..89619992hg38UCSC Ensembl
chr16:89685200..89686400hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126441, nsv1131122
SamplesKWS1, KWS2
Known GenesDPEP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1388n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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