A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2452n106



Internal ID20161809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:27821312..27860012hg38UCSC Ensembl
chr22:28217300..28256000hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3838701
hg1938701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1136353, nsv1126629
SamplesKWS2, KWS1
Known GenesPITPNB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2452n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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