A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060316



Internal ID18802847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33248690..33341739hg38UCSC Ensembl
Innerchr22:33644676..33737725hg19UCSC Ensembl
Innerchr22:31974676..32067725hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3893050
hg1993050
hg1893050
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600825
Samples
Known GenesLARGE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060316
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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