A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588043



Internal ID16375452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16368911..16409399hg38UCSC Ensembl
Innerchr22:16849573..16890125hg19UCSC Ensembl
Innerchr22:15229573..15270125hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3840489
hg1940553
hg1840553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv949474
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588043
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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