A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066595



Internal ID18809126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25596614..26071416hg38UCSC Ensembl
Innerchr22:25992581..26467382hg19UCSC Ensembl
Innerchr22:24322581..24797382hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38474803
hg19474802
hg18474802
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600784
Samples
Known GenesADRBK2, MIR1302-1, MYO18B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066595
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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