A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14246913



Internal ID21306392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18806434..18964032hg38UCSC Ensembl
Outerchr22:18794033..18966491hg38UCSC Ensembl
Innerchr22:18793947..18951545hg19UCSC Ensembl
Outerchr22:18781546..18954004hg19UCSC Ensembl
Innerchr22:17173947..17331545hg18UCSC Ensembl
Outerchr22:17161546..17334004hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38172459
hg19172459
hg18172459
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170239
Supporting Variants
SamplesNGO_27
Known GenesDGCR6, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14246913
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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