A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063298



Internal ID18805829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23579240..23651171hg38UCSC Ensembl
Innerchr22:23921427..23993358hg19UCSC Ensembl
Innerchr22:22251427..22323358hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3871932
hg1971932
hg1871932
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4529n100
Supporting Variantsnssv3586524
Samples
Known GenesC22orf43, GUSBP11, IGLL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063298
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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