A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2430n106



Internal ID20161787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17801130..17801460hg38UCSC Ensembl
chr22:18283896..18284226hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1130447, nsv1130024, nsv1145368
SamplesKWS1, KWS2
Known GenesMICAL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2430n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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