A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060294



Internal ID18802825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20158003..20248450hg38UCSC Ensembl
Innerchr22:20145526..20235973hg19UCSC Ensembl
Innerchr22:18525526..18615973hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3890448
hg1990448
hg1890448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3587372
Samples
Known GenesLINC00896, LOC284865, RTN4R
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060294
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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