A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14243848



Internal ID21306400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18975827..19018612hg38UCSC Ensembl
Outerchr22:18974269..19019471hg38UCSC Ensembl
Innerchr22:18963340..19006125hg19UCSC Ensembl
Outerchr22:18961782..19006984hg19UCSC Ensembl
Innerchr22:17343340..17386125hg18UCSC Ensembl
Outerchr22:17341782..17386984hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3845203
hg1945203
hg1845203
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170239
Supporting Variants
SamplesNGO_27
Known GenesDGCR5, DGCR9
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14243848
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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