A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066498



Internal ID18809029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21252783..21490766hg38UCSC Ensembl
Innerchr22:21607072..21845055hg19UCSC Ensembl
Innerchr22:19937072..20175055hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38237984
hg19237984
hg18237984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4487n100
Supporting Variantsnssv3587512
Samples
Known GenesHIC2, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066498
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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