A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14250109



Internal ID21307562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18745406..18822596hg38UCSC Ensembl
Outerchr22:18190590..18822597hg38UCSC Ensembl
Innerchr22:18732919..18810109hg19UCSC Ensembl
Outerchr22:18673357..18810110hg19UCSC Ensembl
Innerchr22:17112919..17190109hg18UCSC Ensembl
Outerchr22:17053357..17190110hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38632008
hg19136754
hg18136754
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170239
Supporting Variants
SamplesNGO_35
Known GenesGGT3P
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14250109
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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