A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2422n106



Internal ID22796250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:16367238..16386738hg38UCSC Ensembl
chr22:16847900..16867400hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3819501
hg1919501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115625, nsv1132565
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2422n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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