A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14102652



Internal ID21289235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29360861..29420093hg38UCSC Ensembl
Innerchr22:29756850..29816082hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3859233
hg1959233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115947
Supporting Variants
Samplessample44
Known GenesAP1B1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14102652
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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