A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588881



Internal ID16029604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:28597195..28713048hg38UCSC Ensembl
Innerchr22:28993183..29109036hg19UCSC Ensembl
Innerchr22:27323183..27439036hg18UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38115854
hg19115854
hg18115854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151734
SamplesHGDP00144
Known GenesCHEK2, TTC28
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588881
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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