A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14249348



Internal ID21313046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18794033..18822596hg38UCSC Ensembl
Outerchr22:18783014..18822597hg38UCSC Ensembl
Innerchr22:18781546..18810109hg19UCSC Ensembl
Outerchr22:18770527..18810110hg19UCSC Ensembl
Innerchr22:17161546..17190109hg18UCSC Ensembl
Outerchr22:17150527..17190110hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3839584
hg1939584
hg1839584
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170239
Supporting Variants
SamplesSNI_7
Known GenesGGT3P
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14249348
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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