A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588896



Internal ID16376305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32629194..32701676hg38UCSC Ensembl
Innerchr22:33025180..33097662hg19UCSC Ensembl
Innerchr22:31355180..31427662hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3872483
hg1972483
hg1872483
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151739
Samples1780862585_A
Known GenesSYN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588896
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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